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Erschienen in: Urolithiasis 1/2017

28.11.2016 | Invited Review

Tubular and genetic disorders associated with kidney stones

verfasst von: Nilufar Mohebbi, Pietro Manuel Ferraro, Giovanni Gambaro, Robert Unwin

Erschienen in: Urolithiasis | Ausgabe 1/2017

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Abstract

This concise review summarizes our current understanding and the recent developments in genetics and related renal tubular disorders that have been linked with, or have been shown to be causal in, renal stone disease. The aim is to provide a readily accessible quick and easy update for urologists, nephrologists and endocrine or metabolic physicians whose practice involves the diagnosis and management of nephrolithiasis. An important message is to always consider a seemingly rare, and usually genetic, cause of kidney stones, since some of these are emerging as more common than originally thought, especially in adult clinical practice in which a family history of stones is a common finding.
Literatur
3.
Zurück zum Zitat Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F (2015) Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol 26(3):543–551. doi:10.1681/ASN.2014040388 PubMedCrossRef Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F (2015) Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol 26(3):543–551. doi:10.​1681/​ASN.​2014040388 PubMedCrossRef
7.
Zurück zum Zitat Cassidy MJ, McCulloch T, Fairbanks LD, Simmonds HA (2004) Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. Nephrol Dial Transplant 19(3):736–738PubMedCrossRef Cassidy MJ, McCulloch T, Fairbanks LD, Simmonds HA (2004) Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. Nephrol Dial Transplant 19(3):736–738PubMedCrossRef
8.
Zurück zum Zitat Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T (2001) Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am J Kidney Dis 38(3):473–480PubMedCrossRef Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T (2001) Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am J Kidney Dis 38(3):473–480PubMedCrossRef
10.
Zurück zum Zitat Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA (2003) Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. J Am Soc Nephrol 14(12):3027–3038PubMedCrossRef Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA (2003) Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. J Am Soc Nephrol 14(12):3027–3038PubMedCrossRef
11.
Zurück zum Zitat Dhayat NA, Schaller A, Albano G, Poindexter J, Griffith C, Pasch A, Gallati S, Vogt B, Moe OW, Fuster DG (2016) The vacuolar H+-ATPase B1 subunit polymorphism p. E161K associates with impaired urinary acidification in recurrent stone formers. J Am Soc Nephrol 27(5):1544–1554. doi:10.1681/ASN.2015040367 PubMedCrossRef Dhayat NA, Schaller A, Albano G, Poindexter J, Griffith C, Pasch A, Gallati S, Vogt B, Moe OW, Fuster DG (2016) The vacuolar H+-ATPase B1 subunit polymorphism p. E161K associates with impaired urinary acidification in recurrent stone formers. J Am Soc Nephrol 27(5):1544–1554. doi:10.​1681/​ASN.​2015040367 PubMedCrossRef
12.
Zurück zum Zitat Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wuthrich RP, Wagner CA (2013) Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clin Genet 83(3):274–278. doi:10.1111/j.1399-0004.2012.01891.x PubMedCrossRef Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wuthrich RP, Wagner CA (2013) Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clin Genet 83(3):274–278. doi:10.​1111/​j.​1399-0004.​2012.​01891.​x PubMedCrossRef
13.
Zurück zum Zitat Hennings JC, Picard N, Huebner AK, Stauber T, Maier H, Brown D, Jentsch TJ, Vargas-Poussou R, Eladari D, Hubner CA (2012) A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule. EMBO Mol Med 4(10):1057–1071. doi:10.1002/emmm.201201527 PubMedPubMedCentralCrossRef Hennings JC, Picard N, Huebner AK, Stauber T, Maier H, Brown D, Jentsch TJ, Vargas-Poussou R, Eladari D, Hubner CA (2012) A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule. EMBO Mol Med 4(10):1057–1071. doi:10.​1002/​emmm.​201201527 PubMedPubMedCentralCrossRef
14.
Zurück zum Zitat Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP (1999) Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21(1):84–90. doi:10.1038/5022 PubMedCrossRef Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP (1999) Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21(1):84–90. doi:10.​1038/​5022 PubMedCrossRef
16.
Zurück zum Zitat Khositseth S, Sirikanaerat A, Khoprasert S, Opastirakul S, Kingwatanakul P, Thongnoppakhun W, Yenchitsomanus PT (2008) Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. Am J Hematol 83(6):465–471. doi:10.1002/ajh.21151 PubMedCrossRef Khositseth S, Sirikanaerat A, Khoprasert S, Opastirakul S, Kingwatanakul P, Thongnoppakhun W, Yenchitsomanus PT (2008) Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. Am J Hematol 83(6):465–471. doi:10.​1002/​ajh.​21151 PubMedCrossRef
18.
Zurück zum Zitat Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P, Sly WS (1992) A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum Mutat 1(4):288–292. doi:10.1002/humu.1380010404 PubMedCrossRef Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P, Sly WS (1992) A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum Mutat 1(4):288–292. doi:10.​1002/​humu.​1380010404 PubMedCrossRef
19.
Zurück zum Zitat Ismail EA, Abul Saad S, Sabry MA (1997) Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. Eur J Pediatr 156(12):957–962PubMedCrossRef Ismail EA, Abul Saad S, Sabry MA (1997) Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. Eur J Pediatr 156(12):957–962PubMedCrossRef
22.
Zurück zum Zitat Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 78(2):179–192. doi:10.1086/499409 PubMedCrossRef Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 78(2):179–192. doi:10.​1086/​499409 PubMedCrossRef
23.
Zurück zum Zitat Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78(2):193–201. doi:10.1086/499410 PubMedCrossRef Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78(2):193–201. doi:10.​1086/​499410 PubMedCrossRef
24.
Zurück zum Zitat Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Savendahl L, Munns CF, Lee H, Juppner H, Bergwitz C (2014) Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. J Am Soc Nephrol 25(10):2366–2375. doi:10.1681/ASN.2013101085 PubMedPubMedCentralCrossRef Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Savendahl L, Munns CF, Lee H, Juppner H, Bergwitz C (2014) Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. J Am Soc Nephrol 25(10):2366–2375. doi:10.​1681/​ASN.​2013101085 PubMedPubMedCentralCrossRef
25.
Zurück zum Zitat Arcidiacono T, Mingione A, Macrina L, Pivari F, Soldati L, Vezzoli G (2014) Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies. Am J Nephrol 40(6):499–506. doi:10.1159/000369833 PubMed Arcidiacono T, Mingione A, Macrina L, Pivari F, Soldati L, Vezzoli G (2014) Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies. Am J Nephrol 40(6):499–506. doi:10.​1159/​000369833 PubMed
26.
Zurück zum Zitat Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G (2002) Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 347(13):983–991. doi:10.1056/NEJMoa020028 PubMedCrossRef Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G (2002) Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 347(13):983–991. doi:10.​1056/​NEJMoa020028 PubMedCrossRef
27.
Zurück zum Zitat Wagner CA, Rubio-Aliaga I, Biber J, Hernando N (2014) Genetic diseases of renal phosphate handling. Nephrol Dial Transplant 29(Suppl 4):iv45–54. doi:10.1093/ndt/gfu217 Wagner CA, Rubio-Aliaga I, Biber J, Hernando N (2014) Genetic diseases of renal phosphate handling. Nephrol Dial Transplant 29(Suppl 4):iv45–54. doi:10.​1093/​ndt/​gfu217
28.
Zurück zum Zitat Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K (2010) A loss-of-function mutation in NaPi-IIa and renal Fanconi’s syndrome. N Engl J Med 362(12):1102–1109. doi:10.1056/NEJMoa0905647 PubMedCrossRef Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K (2010) A loss-of-function mutation in NaPi-IIa and renal Fanconi’s syndrome. N Engl J Med 362(12):1102–1109. doi:10.​1056/​NEJMoa0905647 PubMedCrossRef
30.
Zurück zum Zitat Lapointe JY, Tessier J, Paquette Y, Wallendorff B, Coady MJ, Pichette V, Bonnardeaux A (2006) NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak. Kidney Int 69(12):2261–2267. doi:10.1038/sj.ki.5000437 PubMedCrossRef Lapointe JY, Tessier J, Paquette Y, Wallendorff B, Coady MJ, Pichette V, Bonnardeaux A (2006) NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak. Kidney Int 69(12):2261–2267. doi:10.​1038/​sj.​ki.​5000437 PubMedCrossRef
31.
Zurück zum Zitat Dinour D, Davidovits M, Ganon L, Ruminska J, Forster IC, Hernando N, Eyal E, Holtzman EJ, Wagner CA (2016) Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency. Pediatr Nephrol. doi:10.1007/s00467-016-3443-0 PubMed Dinour D, Davidovits M, Ganon L, Ruminska J, Forster IC, Hernando N, Eyal E, Holtzman EJ, Wagner CA (2016) Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency. Pediatr Nephrol. doi:10.​1007/​s00467-016-3443-0 PubMed
32.
Zurück zum Zitat Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M (2011) Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 365(5):410–421. doi:10.1056/NEJMoa1103864 PubMedCrossRef Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M (2011) Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 365(5):410–421. doi:10.​1056/​NEJMoa1103864 PubMedCrossRef
33.
Zurück zum Zitat Colussi G, Ganon L, Penco S, De Ferrari ME, Ravera F, Querques M, Primignani P, Holtzman EJ, Dinour D (2014) Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure. Nephrol Dial Transplant 29(3):636–643. doi:10.1093/ndt/gft460 PubMedCrossRef Colussi G, Ganon L, Penco S, De Ferrari ME, Ravera F, Querques M, Primignani P, Holtzman EJ, Dinour D (2014) Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure. Nephrol Dial Transplant 29(3):636–643. doi:10.​1093/​ndt/​gft460 PubMedCrossRef
34.
Zurück zum Zitat Ferraro PM, Minucci A, Primiano A, De Paolis E, Gervasoni J, Persichilli S, Naticchia A, Capoluongo E, Gambaro G (2016) A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass. Urolithiasis. doi:10.1007/s00240-016-0923-4 Ferraro PM, Minucci A, Primiano A, De Paolis E, Gervasoni J, Persichilli S, Naticchia A, Capoluongo E, Gambaro G (2016) A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass. Urolithiasis. doi:10.​1007/​s00240-016-0923-4
35.
Zurück zum Zitat Gigante M, Santangelo L, Diella S, Caridi G, Argentiero L, D’’Alessandro MM, Martino M, Stea ED, Ardissino G, Carbone V, Pepe S, Scrutinio D, Maringhini S, Ghiggeri GM, Grandaliano G, Giordano M, Gesualdo L (2016) Mutational spectrum of CYP24A1 gene in a cohort of italian patients with idiopathic infantile hypercalcemia. Nephron 133(3):193–204. doi:10.1159/000446663 PubMedCrossRef Gigante M, Santangelo L, Diella S, Caridi G, Argentiero L, D’’Alessandro MM, Martino M, Stea ED, Ardissino G, Carbone V, Pepe S, Scrutinio D, Maringhini S, Ghiggeri GM, Grandaliano G, Giordano M, Gesualdo L (2016) Mutational spectrum of CYP24A1 gene in a cohort of italian patients with idiopathic infantile hypercalcemia. Nephron 133(3):193–204. doi:10.​1159/​000446663 PubMedCrossRef
36.
Zurück zum Zitat Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA (2013) 1,25-(OH)2D-24 Hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis. Clin J Am Soc Nephrol 8(4):649–657. doi:10.2215/CJN.05360512 PubMedPubMedCentralCrossRef Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA (2013) 1,25-(OH)2D-24 Hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis. Clin J Am Soc Nephrol 8(4):649–657. doi:10.​2215/​CJN.​05360512 PubMedPubMedCentralCrossRef
37.
Zurück zum Zitat Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P (2016) Familial Hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences. J Clin Endocrinol Metab 101(5):2185–2195. doi:10.1210/jc.2015-3442 PubMedCrossRef Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P (2016) Familial Hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences. J Clin Endocrinol Metab 101(5):2185–2195. doi:10.​1210/​jc.​2015-3442 PubMedCrossRef
38.
Zurück zum Zitat Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V (2014) Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. Nephrol Dial Transplant 29(10):1902–1909. doi:10.1093/ndt/gfu065 PubMedCrossRef Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V (2014) Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. Nephrol Dial Transplant 29(10):1902–1909. doi:10.​1093/​ndt/​gfu065 PubMedCrossRef
39.
Zurück zum Zitat Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335(15):1115–1122. doi:10.1056/NEJM199610103351505 PubMedCrossRef Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335(15):1115–1122. doi:10.​1056/​NEJM199610103351​505 PubMedCrossRef
40.
Zurück zum Zitat Oddsson A, Sulem P, Helgason H, Edvardsson VO, Thorleifsson G, Sveinbjornsson G, Haraldsdottir E, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Indridason OS, Palsson R, Stefansson K (2015) Common and rare variants associated with kidney stones and biochemical traits. Nat Commun 6:7975. doi:10.1038/ncomms8975 PubMedPubMedCentralCrossRef Oddsson A, Sulem P, Helgason H, Edvardsson VO, Thorleifsson G, Sveinbjornsson G, Haraldsdottir E, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Indridason OS, Palsson R, Stefansson K (2015) Common and rare variants associated with kidney stones and biochemical traits. Nat Commun 6:7975. doi:10.​1038/​ncomms8975 PubMedPubMedCentralCrossRef
41.
Zurück zum Zitat Vezzoli G, Terranegra A, Aloia A, Arcidiacono T, Milanesi L, Mosca E, Mingione A, Spotti D, Cusi D, Hou J, Hendy GN, Soldati L, Paloschi V, Dogliotti E, Brasacchio C, Dell’Antonio G, Montorsi F, Bertini R, Bellinzoni P, Guazzoni G, Borghi L, Guerra A, Allegri F, Ticinesi A, Meschi T, Nouvenne A, Lupo A, Fabris A, Gambaro G, Strazzullo P, Rendina D, De Filippo G, Brandi ML, Croppi E, Cianferotti L, Trinchieri A, Caudarella R, Cupisti A, Anglani F, Del Prete D (2013) Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis. J Clin Endocrinol Metab 98(9):3839–3847. doi:10.1210/jc.2013-1834 PubMedPubMedCentralCrossRef Vezzoli G, Terranegra A, Aloia A, Arcidiacono T, Milanesi L, Mosca E, Mingione A, Spotti D, Cusi D, Hou J, Hendy GN, Soldati L, Paloschi V, Dogliotti E, Brasacchio C, Dell’Antonio G, Montorsi F, Bertini R, Bellinzoni P, Guazzoni G, Borghi L, Guerra A, Allegri F, Ticinesi A, Meschi T, Nouvenne A, Lupo A, Fabris A, Gambaro G, Strazzullo P, Rendina D, De Filippo G, Brandi ML, Croppi E, Cianferotti L, Trinchieri A, Caudarella R, Cupisti A, Anglani F, Del Prete D (2013) Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis. J Clin Endocrinol Metab 98(9):3839–3847. doi:10.​1210/​jc.​2013-1834 PubMedPubMedCentralCrossRef
43.
44.
45.
Zurück zum Zitat Nishida H, Kaida H, Ishibashi M, Baba K, Kouno K, Okuda S (2005) Evaluation of exercise-induced acute renal failure in renal hypouricemia using Tc-99m DTPA renography. Ann Nucl Med 19(4):325–329PubMedCrossRef Nishida H, Kaida H, Ishibashi M, Baba K, Kouno K, Okuda S (2005) Evaluation of exercise-induced acute renal failure in renal hypouricemia using Tc-99m DTPA renography. Ann Nucl Med 19(4):325–329PubMedCrossRef
47.
Zurück zum Zitat Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379(6564):445–449. doi:10.1038/379445a0 PubMedCrossRef Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379(6564):445–449. doi:10.​1038/​379445a0 PubMedCrossRef
48.
Zurück zum Zitat Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV (1999) Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent’s disease. Hum Mol Genet 8(2):247–257PubMedCrossRef Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV (1999) Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent’s disease. Hum Mol Genet 8(2):247–257PubMedCrossRef
50.
Zurück zum Zitat Wrong OM, Norden AG, Feest TG (1994) Dent’s disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 87(8):473–493PubMed Wrong OM, Norden AG, Feest TG (1994) Dent’s disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 87(8):473–493PubMed
51.
Zurück zum Zitat De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA (2016) Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol 18(8):839–850. doi:10.1038/ncb3386 PubMedPubMedCentralCrossRef De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA (2016) Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol 18(8):839–850. doi:10.​1038/​ncb3386 PubMedPubMedCentralCrossRef
52.
Zurück zum Zitat Blanchard A, Vargas-Poussou R, Peyrard S, Mogenet A, Baudouin V, Boudailliez B, Charbit M, Deschesnes G, Ezzhair N, Loirat C, Macher MA, Niaudet P, Azizi M (2008) Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial. Am J Kidney Dis 52(6):1084–1095. doi:10.1053/j.ajkd.2008.08.021 PubMedCrossRef Blanchard A, Vargas-Poussou R, Peyrard S, Mogenet A, Baudouin V, Boudailliez B, Charbit M, Deschesnes G, Ezzhair N, Loirat C, Macher MA, Niaudet P, Azizi M (2008) Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial. Am J Kidney Dis 52(6):1084–1095. doi:10.​1053/​j.​ajkd.​2008.​08.​021 PubMedCrossRef
55.
Zurück zum Zitat Thorleifsson G, Holm H, Edvardsson V, Walters GB, Styrkarsdottir U, Gudbjartsson DF, Sulem P, Halldorsson BV, de Vegt F, d’Ancona FC, den Heijer M, Franzson L, Christiansen C, Alexandersen P, Rafnar T, Kristjansson K, Sigurdsson G, Kiemeney LA, Bodvarsson M, Indridason OS, Palsson R, Kong A, Thorsteinsdottir U, Stefansson K (2009) Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nat Genet 41(8):926–930. doi:10.1038/ng.404 PubMedCrossRef Thorleifsson G, Holm H, Edvardsson V, Walters GB, Styrkarsdottir U, Gudbjartsson DF, Sulem P, Halldorsson BV, de Vegt F, d’Ancona FC, den Heijer M, Franzson L, Christiansen C, Alexandersen P, Rafnar T, Kristjansson K, Sigurdsson G, Kiemeney LA, Bodvarsson M, Indridason OS, Palsson R, Kong A, Thorsteinsdottir U, Stefansson K (2009) Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nat Genet 41(8):926–930. doi:10.​1038/​ng.​404 PubMedCrossRef
57.
Zurück zum Zitat Weber S, Schneider L, Peters M, Misselwitz J, Ronnefarth G, Boswald M, Bonzel KE, Seeman T, Sulakova T, Kuwertz-Broking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Scharer K, Seyberth HW, Konrad M (2001) Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12(9):1872–1881PubMed Weber S, Schneider L, Peters M, Misselwitz J, Ronnefarth G, Boswald M, Bonzel KE, Seeman T, Sulakova T, Kuwertz-Broking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Scharer K, Seyberth HW, Konrad M (2001) Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12(9):1872–1881PubMed
58.
Zurück zum Zitat Yamaguti PM, Neves FA, Hotton D, Bardet C, de La Dure-Molla M, Castro LC, Scher MD, Barbosa ME, Ditsch C, Fricain JC, de La Faille R, Figueres ML, Vargas-Poussou R, Houiller P, Chaussain C, Babajko S, Berdal A, Acevedo AC (2016) Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. J Med Genet. doi:10.1136/jmedgenet-2016-103956 PubMed Yamaguti PM, Neves FA, Hotton D, Bardet C, de La Dure-Molla M, Castro LC, Scher MD, Barbosa ME, Ditsch C, Fricain JC, de La Faille R, Figueres ML, Vargas-Poussou R, Houiller P, Chaussain C, Babajko S, Berdal A, Acevedo AC (2016) Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. J Med Genet. doi:10.​1136/​jmedgenet-2016-103956 PubMed
59.
Zurück zum Zitat Praga M, Vara J, Gonzalez-Parra E, Andres A, Alamo C, Araque A, Ortiz A, Rodicio JL (1995) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 47(5):1419–1425PubMedCrossRef Praga M, Vara J, Gonzalez-Parra E, Andres A, Alamo C, Araque A, Ortiz A, Rodicio JL (1995) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 47(5):1419–1425PubMedCrossRef
60.
62.
Zurück zum Zitat Pelle A, Cuccurullo A, Mancini C, Sebastiano R, Stallone G, Negrisolo S, Benetti E, Peruzzi L, Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G (2016) Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. J Nephrol. doi:10.1007/s40620-016-0287-4 PubMed Pelle A, Cuccurullo A, Mancini C, Sebastiano R, Stallone G, Negrisolo S, Benetti E, Peruzzi L, Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G (2016) Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. J Nephrol. doi:10.​1007/​s40620-016-0287-4 PubMed
66.
Zurück zum Zitat Naderi G, Latif A, Tabassomi F, Esfahani ST (2014) Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2. Pediatr Transplant 18(3):E69–E73. doi:10.1111/petr.12240 PubMedCrossRef Naderi G, Latif A, Tabassomi F, Esfahani ST (2014) Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2. Pediatr Transplant 18(3):E69–E73. doi:10.​1111/​petr.​12240 PubMedCrossRef
68.
Zurück zum Zitat Williams EL, Bockenhauer D, van’t Hoff WG, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G (2012) The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant 27(8):3191–3195. doi:10.1093/ndt/gfs039 PubMedCrossRef Williams EL, Bockenhauer D, van’t Hoff WG, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G (2012) The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant 27(8):3191–3195. doi:10.​1093/​ndt/​gfs039 PubMedCrossRef
69.
Zurück zum Zitat Zhao F, Bergstralh EJ, Mehta RA, Vaughan LE, Olson JB, Seide BM, Meek AM, Cogal AG, Lieske JC, Milliner DS (2016) Predictors of incident ESRD among patients with primary hyperoxaluria presenting prior to kidney failure. Clin J Am Soc Nephrol 11(1):119–126. doi:10.2215/CJN.02810315 PubMedCrossRef Zhao F, Bergstralh EJ, Mehta RA, Vaughan LE, Olson JB, Seide BM, Meek AM, Cogal AG, Lieske JC, Milliner DS (2016) Predictors of incident ESRD among patients with primary hyperoxaluria presenting prior to kidney failure. Clin J Am Soc Nephrol 11(1):119–126. doi:10.​2215/​CJN.​02810315 PubMedCrossRef
70.
Zurück zum Zitat Lu X, Sun D, Xu B, Pan J, Wei Y, Mao X, Yu D, Liu H, Gao B (2016) In silico screening and molecular dynamic study of nonsynonymous single nucleotide polymorphisms associated with kidney stones in the SLC26A6 gene. J Urol 196(1):118–123. doi:10.1016/j.juro.2016.01.093 PubMedCrossRef Lu X, Sun D, Xu B, Pan J, Wei Y, Mao X, Yu D, Liu H, Gao B (2016) In silico screening and molecular dynamic study of nonsynonymous single nucleotide polymorphisms associated with kidney stones in the SLC26A6 gene. J Urol 196(1):118–123. doi:10.​1016/​j.​juro.​2016.​01.​093 PubMedCrossRef
71.
Zurück zum Zitat Jiang Z, Asplin JR, Evan AP, Rajendran VM, Velazquez H, Nottoli TP, Binder HJ, Aronson PS (2006) Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nat Genet 38(4):474–478. doi:10.1038/ng1762 PubMedCrossRef Jiang Z, Asplin JR, Evan AP, Rajendran VM, Velazquez H, Nottoli TP, Binder HJ, Aronson PS (2006) Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nat Genet 38(4):474–478. doi:10.​1038/​ng1762 PubMedCrossRef
Metadaten
Titel
Tubular and genetic disorders associated with kidney stones
verfasst von
Nilufar Mohebbi
Pietro Manuel Ferraro
Giovanni Gambaro
Robert Unwin
Publikationsdatum
28.11.2016
Verlag
Springer Berlin Heidelberg
Erschienen in
Urolithiasis / Ausgabe 1/2017
Print ISSN: 2194-7228
Elektronische ISSN: 2194-7236
DOI
https://doi.org/10.1007/s00240-016-0945-y

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