nach oben

Urolithiasis

Erschienen in:

18.12.2018 | Invited Review

Urinary proteome in inherited nephrolithiasis

verfasst von: Giovanna Capolongo, Miriam Zacchia, Alessandra Perna, Davide Viggiano, Giovambattista Capasso

Erschienen in: Urolithiasis | Ausgabe 1/2019

Einloggen, um Zugang zu erhalten

Abstract

In the last decades, proteomics has been largely applied to the Nephrology field, with the double aim to (1) elucidate the biological processes underlying renal diseases; (2) identify disease-specific biomarkers, predictor factors of therapeutic efficacy and prognostic factors of disease progression. Kidney stone disease, and in particular, inherited nephrolithiasis (INL) are not an exception. Given the multifactorial origin of these disorders, the combination of genomics and proteomics studies may complement each other, with the final objective to give a global and comprehensive mechanistic view. In this review, we summarize the results of recent proteomic studies which have expanded our knowledge about INL, focusing the attention on monogenic forms of nephrolithiasis (cystinuria, Dent’s disease, Bartter syndrome, distal renal tubular acidosis and primary hyperoxaluria), on polygenic hypercalciuria and on medullary sponge kidney disease.

Moe OW, Bonny O (2005) Genetic hypercalciuria. J Am Soc Nephrol 16(3):729–745. https://doi.org/10.1681/ASN.2004100888 CrossRefPubMed

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. https://doi.org/10.1681/ASN.2014040388 CrossRefPubMed

Lieske JC, Turner ST, Edeh SN, Smith JA et al (2014) Heritability of urinary traits that contribute to nephrolithiasis. J Am Soc Nephrol 9(5):943–950. https://doi.org/10.2215/CJN.08210813 CrossRef

Mohebbi N, Ferraro PM, Gambaro G et al (2017) Tubular and genetic disorders associated with kidneystones. Urolithiasis 45:127. https://doi.org/10.1007/s00240-016-0945-y CrossRefPubMed

Thongboonkerd V (2008) Proteomics and kidney stone disease. Contrib Nephrol 160:142–158. https://doi.org/10.1159/000125972 CrossRefPubMed

Zacchia M, Vilasi A, Capasso A, Morelli F et al (2011) Genomic and proteomic approaches to renal cell carcinoma. J Nephrol 24(2):155–164CrossRefPubMed

Costanzo M, Zacchia M, Bruno G, Crisci D, Caterino M, Ruoppolo M (2017) Integration of proteomics and metabolomics in exploring genetic and rare metabolic diseases. Kidney Dis Basel 3(2):66–77. https://doi.org/10.1159/000477493 CrossRefPubMedPubMedCentral

Beasley-Green A (2016) Urine proteomics in the era of mass spectrometry. Int Neurourol J 20(Suppl 2):S70–S75. https://doi.org/10.5213/inj.1612720.360 CrossRefPubMedPubMedCentral

Mischak H, Kaiser T, Walden M et al (2004) Proteomic analysis for the assessment of diabetic renal damage in humans. Clin Sci 107:485–495. https://doi.org/10.1042/CS20040103 CrossRefPubMed

10.

Park MR, Wang EH, Jin DC et al (2006) Establishment of a 2-Dhuman urinary proteomic map in IgA nephropathy. Proteomics 6(3):1066–1076. https://doi.org/10.1002/pmic.200500023 CrossRefPubMed

11.

Wittke S, Haubitz M, Walden M et al (2005) Detection of acute tubulointerstitial rejection by proteomic analysis of urinary samples in renal transplant recipients. Am J Transplant 5(10):2479–2488. https://doi.org/10.1111/j.1600-6143.2005.01053.x CrossRefPubMed

12.

Caterino M, Zacchia M, Costanzo M, Bruno G, Arcaniolo D, Trepiccione F, Siciliano RA, Mazzeo MF, Ruoppolo M, Capasso G (2018) Urine proteomics revealed a significant correlation between urine–fibronectin abundance and estimated-GFR decline in patients with Bardet–Biedl syndrome. Kidney Blood Press Res 43(2):389–405. https://doi.org/10.1159/000488096 CrossRefPubMed

13.

Diedrich B, Dengjel J (2017) Insights into autosomal dominant polycystic kidney disease by quantitative mass spectrometry-based proteomics. Cell Tissue Res 369(1):41–51. https://doi.org/10.1007/s00441-017-2617-9 CrossRefPubMed

14.

Cadieux PA, Beiko DT, Watterson JD, Burton JP, Howard JC, Knudsen BE et al (2004) Surface-enhanced laser desorption/ionization-time of flight-mass spectrometry (SELDI-TOF-MS): a new proteomic urinary test for patients with urolithiasis. J Clin Lab Anal 18(3):170–175. https://doi.org/10.1002/jcla.20018 CrossRefPubMed

15.

Raj DA, Fiume I, Capasso G, Pocsfalvi G (2012) Urinary exosomes for protein biomarker research. Kidney Int 81(12):1263–1272. https://doi.org/10.1038/ki.2012.25 CrossRefPubMed

16.

Pisitkun T, Shen RF, Knepper MA (2004) Identification and proteomic profiling of exosomes in human urine. Proc Natl Acad Sci USA 101:13368– 13373. https://doi.org/10.1073/pnas.0403453101 CrossRefPubMed

17.

Zhou H, Yuen PS, Pisitkun T, Gonzales PA et al (2006) Collection, storage, preservation, and normalization of human urinary exosomes for biomarker discovery. Kidney Int 69:1471–1476. https://doi.org/10.1038/sj.ki.5000273 CrossRefPubMedPubMedCentral

18.

Cheruvanky A, Zhou H, Pisitkun T, Kopp JB, Knepper MA, Yuen PS, Star RA (2007) Rapid isolation of urinary exosomal biomarkers using a nanomembrane ultrafiltration concentrator. Am J Physiol Renal Physiol 292:F1657– F1661. https://doi.org/10.1152/ajprenal.00434 CrossRefPubMedPubMedCentral

19.

Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta R, Wang NS, Knepper MA (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J Am Soc Nephrol 20(2):363–379. https://doi.org/10.1681/ASN.2008040406 CrossRefPubMedPubMedCentral

20.

Klein J, Bascands JL, Mischak H, Schanstra JP (2016) The role of urinary peptidomics in kidney disease research. Kidney Int 89(3):539–545. https://doi.org/10.1016/j.kint.2015.10.010 CrossRefPubMed

21.

Chandramouli K, Qian PY (2009) Proteomics: challenges, techniques and possibilities to overcome biological sample complexity. Hum Genom Proteom. 2009:239204. https://doi.org/10.4061/2009/239204 CrossRef

22.

Zacchia M, Abategiovanni ML, Stratigis S, Capasso G (2016) Potassium: from physiology to clinical implications. Kidney Dis Basel 2(2):72–79. https://doi.org/10.1159/000446268 CrossRefPubMedPubMedCentral

23.

Simeoni M, Damiano S, Capolongo G, Trepiccione F, Zacchia M, Fuiano G, Capasso G (2017) Rare renal diseases can be used as tools to investigate common kidney disorders. Kidney Dis Basel 3(2):43–49. https://doi.org/10.1159/000475841 CrossRefPubMedPubMedCentral

24.

Zacchia M, Tian X, Zona E, Alpern RJ, Preisig PA (2018) Acid stimulation of the citrate transporter NaDC-1 requires Pyk2 and ERK1/2 signaling pathways. J Am Soc Nephrol 29(6):1720–1730. https://doi.org/10.1681/ASN.2017121268 CrossRefPubMedPubMedCentral

25.

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A et al (1995) Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am J Hum Genet 57(4):781–788

26.

Rhodes HL, Yarram-Smith L, Rice SJ et al (2015) Clinical and genetic analysis of patients with cystinuria in the United Kingdom. Clin J Am Soc Nephrol 7(7):1235–1245. https://doi.org/10.2215/CJN.10981114 10).CrossRef

27.

Bourderioux M, Nguyen-Khoa T, Chhuon C, Jeanson L, Tondelier D, Walczak M, Ollero M, Bekri S, Knebelmann B, Escudier E, Escudier B, Edelman A, Guerrera IC (2015) A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients. J Proteom Res 14(1):567–577. https://doi.org/10.1021/pr501003q CrossRef

28.

Kovacevic L, Lu H, Goldfarb DS, Lakshmanan Y, Caruso JA (2015) Urine proteomic analysis in cystinuric children with renal stones. J Pediatr Urol 11(4):217. https://doi.org/10.1016/j.jpurol.2015.04.020 CrossRefPubMedPubMedCentral

29.

Lieske JC, Milliner DS, Beara-Lasic L, Harris P, Cogal A, Abrash E (2012) Dent disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds), GeneReviews®. University of Washington, Seattle, 1993–2018

30.

Vilasi A, Capasso G (2010) Proteomics and tubulopathies. J Nephrol 23(Suppl 16):S221–S227

31.

Cutillas PR, Chalkley RJ, Hansen KC et al (2004) The urinary proteome in Fanconi syndrome implies specificity in the reabsorption of proteins by renal proximal tubule cells. Am J Physiol Renal Physiol 287(3):F353–F364. https://doi.org/10.1152/ajprenal.00018.2004 CrossRefPubMed

32.

Vilasi A, Cutillas PR, Maher AD et al (2007) Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome. Am J Physiol Renal Physiol 293(2):F456–F467. https://doi.org/10.1152/ajprenal.00095.2007 CrossRefPubMed

33.

Pereira PC, Miranda DM, Oliveira EA, Silva AC (2009) Molecular pathophysiology of renal tubular acidosis. Curr Genom 10:51–59. https://doi.org/10.2174/138920209787581262 CrossRef

34.

Santucci L, Candiano G, Anglani F, Bruschi M, Tosetto E et al (2016) Urine proteome analysis in Dent’s disease shows high selective changes potentially involved in chronic renal damage. J Proteom 130:26–32. https://doi.org/10.1016/j.jprot.2015.08.024 CrossRef

35.

Unwin RJ, Capasso G (2006) Bartter’s and Gitelman’s syndromes: their relationship to the actions of loop and thiazide diuretics. Curr Opin Pharmacol 6(2):208–213. https://doi.org/10.1016/j.coph.2006.01.002 CrossRefPubMed

36.

Petrazzuolo O, Trepiccione F, Zacchia M, Capasso G (2010) Hypertension and renal calcium transport. J Nephrol 16:S112–S117

37.

Zacchia M, Di Iorio V, Trepiccione F, Caterino M, Capasso G (2017) The kidney in bardet–biedl syndrome: possible pathogenesis of urine concentrating defect. Kidney Dis Basel 3(2):57–65. https://doi.org/10.1159/000475500 CrossRefPubMedPubMedCentral

38.

Zacchia M, Capasso G (2015) The importance of uromodulin as regulator of salt reabsorption along the thick ascending limb. Nephrol Dial Transplant 30(2):158–160. https://doi.org/10.1093/ndt/gfu365 CrossRefPubMed

39.

Zacchia M, Capasso G (2011) Dehydration: a new modulator of Klotho expression. Am J Physiol Renal Physiol 301(4):F743–F744. https://doi.org/10.1152/ajprenal.00412.2011 CrossRefPubMed

40.

Zacchia M, Capolongo G, Rinaldi L, Capasso G (2018) The importance of the thick ascending limb of Henle’s loop in renal physiology and pathophysiology. Int J Nephrol Renovasc Dis 15:11:81–92. https://doi.org/10.2147/IJNRD.S154000 CrossRef

41.

Corbetta S, Raimondo F, Tedeschi S et al (2015) Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes. Nephrol Dial Transplant 30(4):621–630. https://doi.org/10.1093/ndt/gfu362 CrossRefPubMed

42.

Isobe K, Mori T, Asano T et al (2013) Development of enzyme-linked immuno- sorbent assays for urinary thiazide-sensitive Na–Cl cotransporter measurement. Am J Physiol Renal Physiol 305:F1374–F1381. https://doi.org/10.1152/ajprenal.00208.2013 CrossRefPubMed

43.

Fuster DG, Moe OW (2018) Incomplete distal renal tubular acidosis and kidney stones. Adv Chronic Kidney Dis 25(4):366–374. https://doi.org/10.1053/j.ackd.2018.05.007 CrossRefPubMed

44.

Enerbäck S, Nilsson D, Edwards N et al (2018) Acidosis and deafness in patients with recessive mutations in FOXI1. JASN 29(3):1041–1048. https://doi.org/10.1681/ASN.2017080840 CrossRefPubMed

45.

Zacchia M, Preisig P (2010) Low urinary citrate: an overview. J Nephrol 23(Suppl 16):S49–S56

46.

Gambaro G, Croppi E, Coe F, Lingeman J, Moe O et al. Consensus Conference Group (2016) Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement. J Nephrol 29(6):715–734. https://doi.org/10.1007/s40620-016-0329-y CrossRef

47.

Pathare G, Dhayat N, Mohebbi N, Wagner CA, Cheval L, Neuhaus TJ, Fuster DG (2018) Acute regulated expression of pendrin in human urinary exosomes. Pflugers Arch 470(2):427–438. https://doi.org/10.1007/s00424-017-2049-0 CrossRefPubMed

48.

Pathare G, Dhayat NA, Mohebbi N, Wagner CA, Bobulescu IA, Moe OW, Fuster DG (2018) Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis. Kidney Int 93(4):871–880. https://doi.org/10.1016/j.kint.2017.10.018 CrossRefPubMedPubMedCentral

49.

Luft FC, Wagner CA (2018) Pendred, pendrin, pseudohypoaldosteronism type II, and renal tubular acidosis. Kidney Int 94(3):457–459. https://doi.org/10.1016/j.kint.2018.05.024 CrossRefPubMed

50.

Hoppe B, Beck BB, Milliner DS (2009) The primary hyperoxalurias. Kidney Int 75(12):1264–1271. https://doi.org/10.1038/ki.2009.32 CrossRefPubMedPubMedCentral

51.

Brooks ER, Hoppe B, Milliner DS, Salido E et al (2016) Assessment of urine proteomics in type 1 primary hyperoxaluria. Am J Nephrol 43(4):293–303. https://doi.org/10.1159/000445448 CrossRefPubMedPubMedCentral

52.

Hernández-Fernaud JR, Salido E (2010) Differential expression of liver and kidney proteins in a mouse model for primary hyperoxaluria type I. FEBS J 277(22):4766–4774. https://doi.org/10.1111/j.1742-4658.2010.07882.x CrossRefPubMed

53.

Coe FL, Parks JH, Moore ES (1979) Familial idiopathic hypercalciuria. N Engl J Med 300:337–340. https://doi.org/10.1056/NEJM197902153000703 CrossRefPubMed

54.

Merchant ML, Cummins TD, Wilkey DW, Salyer SA et al (2008) Proteomic analysis of renal calculi indicates an important role for inflammatory processes in calcium stone formation. Am J Physiol Renal Physiol 295(4):F1254–F1258. https://doi.org/10.1152/ajprenal.00134.2008 CrossRefPubMedPubMedCentral

55.

Pak CYC, Adams-Huet B, Poindexter JR, Pearle MS, Peterson RD, Moe OW (2004) Relative effect of urinary calcium and oxalate on saturation of calcium oxalate. Kidney Int 66:2032–2037. https://doi.org/10.1111/j.1523-1755.2004.00975.x CrossRefPubMed

56.

Canales BK, Anderson L, Higgins L et al (2010) Proteomic of human calcium kidney stone. Urology 76:1017–1020. https://doi.org/10.1016/j.urology.2010.05.005 CrossRefPubMed

57.

Baggio B, Gambaro G, Ossi E et al (1983) Increased urinary excretion of renal enzymes in idiopathic calcium oxalate nephrolithiasis. J Urol 129(6):1161–1162. https://doi.org/10.1016/S0022-5347(17)52619-1 CrossRefPubMed

58.

Grover P, Resnick M (1995) Evidence for the presence of abnormal proteins in the urine of recurrent stone formers. J Urol 153:1716–1721. https://doi.org/10.1016/S0022-5347(01)67511-6 CrossRefPubMed

59.

Ryall RL (2004) Macromolecules and urolithiasis: parallels and paradoxes. Nephron Physiol 98:p37–p42. https://doi.org/10.1159/000080262 CrossRefPubMed

60.

Okumura N, Tsujihata M, Momohara C, Yoshioka I, Suto K et al (2013) Diversity in protein profiles of individual calcium oxalate kidney stones. PLoS One 8(7):e68624. https://doi.org/10.1371/journal.pone.0068624 CrossRefPubMedPubMedCentral

61.

Wright CA, Howles S, Trudgian DC et al (2011) Label-free quantitative proteomics reveals differentially regulated proteins influencing urolithiasis. Mol Cell Proteom 10(8):M110.005686. https://doi.org/10.1074/mcp.M110.005686 CrossRef

62.

Sakhaee K, Capolongo G, Maalouf NM, Pasch A, Moe OW, Poindexter J, Adams-Huet B (2012) Metabolic syndrome and the risk of calcium stones. Nephrol Dial Transplant 27(8):3201–3209. https://doi.org/10.1093/ndt/gfr703 CrossRefPubMedPubMedCentral

63.

Semangoen T, Sinchaikul S, Chen ST, Thongboonkerd V (2008) Altered proteins in MDCK renal tubular cells in response to calcium oxalate dihydrate crystal adhesion: a proteomics approach. J Proteom Res 7(7):2889–2896. https://doi.org/10.1021/pr800113k CrossRef

64.

Chutipongtanate S, Fong-ngern K, Peerapen P, Thongboonkerd V (2012) High calcium enhances calcium oxalate crystal binding capacity of renal tubular cells via increased surface annexin A1 but impairs their proliferation and healing. J Proteom Res 11(7):3650–3663. https://doi.org/10.1021/pr3000738 CrossRef

65.

Kovacevic L, Lu H, Caruso JA, Lakshmanan Y (2016) Renal tubular dysfunction in pediatric urolithiasis: proteomic evidence. Urology 92:100–105. https://doi.org/10.1016/j.urology.2016.02.003 CrossRefPubMedPubMedCentral

66.

Sikora P, Glatz S, Beck BB et al (2003) Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis. Pediatr Nephrol 18:996–999. https://doi.org/10.1007/s00467-003-1229-7 CrossRefPubMed

67.

Fabris A, Anglani F, Lupo A et al (2013) Medullary sponge kidney: state of the art. Nephrol Dial Transplant 28:1111–1119. https://doi.org/10.1093/ndt/gfs505 CrossRefPubMed

68.

Rommel D, Pirson Y (2001) Medullary sponge kidney–part of a congenital syndrome. Nephrol Dial Transplant 16:634–636CrossRefPubMed

69.

Fabris A, Lupo A, Ferraro PM et al (2013) Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity. Kidney Int 83:272–277. https://doi.org/10.1038/ki.2012.378 CrossRefPubMed

70.

Torregrossa R, Anglani F, Fabris A et al (2010) Identification of GDNF gene sequence variations in patients with medullary sponge kidney disease. Clin J Am Soc Nephrol 5:1205–1210. https://doi.org/10.2215/CJN.07551009 CrossRefPubMedPubMedCentral

71.

Gambaro G, Danza FM, Fabris A (2013) Medullary sponge kidney. Curr Opin Nephrol Hypertens 22(4):421–426. https://doi.org/10.1097/MNH.0b013e3283622b86 CrossRefPubMed

72.

Fabris A, Bruschi M, Santucci L et al (2017) Proteomic-based research strategy identified laminin subunit alpha 2 as a potential urinary-specific biomarker for the medullary sponge kidney disease. Kidney Int 91(2):459–468. https://doi.org/10.1016/j.kint.2016.09.035 CrossRefPubMed

73.

Chutipongtanate S (2017) Breaking the ice: urine proteomics of medullary sponge kidney disease. Kidney Int 91(2):281–283. https://doi.org/10.1016/j.kint.2016.10.032 CrossRefPubMed

74.

Hogan MC, Bakeberg JL, Gainullin VG et al (2015) Identification of biomarkers for PKD1 using urinary exosomes. J Am Soc Nephrol 26(7):1661–1670. https://doi.org/10.1681/ASN.2014040354 CrossRefPubMed

75.

Choi DS (2015) Urinary extracellular vesicles for biomarker source to monitor polycystic kidney disease. Proteomics Clin Appl 9(5–6):447–448. https://doi.org/10.1002/prca.201500053 CrossRefPubMed

Titel: Urinary proteome in inherited nephrolithiasis
verfasst von: Giovanna Capolongo
Miriam Zacchia
Alessandra Perna
Davide Viggiano
Giovambattista Capasso
Publikationsdatum: 18.12.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Urolithiasis / Ausgabe 1/2019
Print ISSN: 2194-7228
Elektronische ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-018-01104-y

Neu im Fachgebiet Urologie

Adjuvante Immuntherapie verlängert Leben bei RCC

25.04.2024 Nierenkarzinom Nachrichten

Nun gibt es auch Resultate zum Gesamtüberleben: Eine adjuvante Pembrolizumab-Therapie konnte in einer Phase-3-Studie das Leben von Menschen mit Nierenzellkarzinom deutlich verlängern. Die Sterberate war im Vergleich zu Placebo um 38% geringer.

Bei Senioren mit Prostatakarzinom auf Anämie achten!

24.04.2024 DGIM 2024 Nachrichten

Patienten, die zur Behandlung ihres Prostatakarzinoms eine Androgendeprivationstherapie erhalten, entwickeln nicht selten eine Anämie. Wer ältere Patienten internistisch mitbetreut, sollte auf diese Nebenwirkung achten.

Stufenschema weist Prostatakarzinom zuverlässig nach

22.04.2024 Prostatakarzinom Nachrichten

Erst PSA-Test, dann Kallikrein-Score, schließlich MRT und Biopsie – ein vierstufiges Screening-Schema kann die Zahl der unnötigen Prostatabiopsien erheblich reduzieren: Die Hälfte der Männer, die in einer finnischen Studie eine Biopsie benötigten, hatte einen hochgradigen Tumor.

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

20.04.2024 EAU 2024 Kongressbericht

Beim chronischen Harnwegsinfekt bei Frauen wird bisher meist eine Antibiotikaprophylaxe eingesetzt. Angesichts der zunehmenden Antibiotikaresistenz erweist sich das Antiseptikum Methenamin-Hippurat als vielversprechende Alternative, so die Auswertung einer randomisierten kontrollierten Studie.

Update Urologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 1/2019

Empiric therapy for kidney stones

Empirical therapy or precision medicine for kidney stone formers in the ‘-omics’ era?

Genetics of common complex kidney stone disease: insights from genome-wide association studies

Cystinuria: genetic aspects, mouse models, and a new approach to therapy