nach oben

Urolithiasis

Erschienen in:

20.11.2018 | Invited Review

Heritable traits that contribute to nephrolithiasis

verfasst von: John C. Lieske, Xiangling Wang

Erschienen in: Urolithiasis | Ausgabe 1/2019

Einloggen, um Zugang zu erhalten

Abstract

Urinary stones tend to cluster in families. Of the known risk factors, evidence is strongest for heritability of urinary calcium excretion. Recent studies suggest that other stone risk factors may have heritable components including urinary pH, citrate and magnesium excretion, and circulating vitamin D concentration. Several risk factors assumed purely environmental may also have heritable components, including dietary intake and thirst. Thus, future studies may reveal that genetics plays an even stronger role in urinary stone pathogenesis than previously known.

Ketha H, Singh RJ, Grebe SK, Bergstralh EJ, Rule AD, Lieske JC, Kumar R (2015) Altered calcium and vitamin D homeostasis in first-time calcium kidney stone-formers. PLoS One 10:e0137350CrossRef

Stamatelou KK, Francis ME, Jones CA, Nyberg LM, Curhan GC (2003) Time trends in reported prevalence of kidney stones in the United States: 1976–1994. Kidney Int 63:1817–1823CrossRef

Ljunghall S, Danielson BG (1984) A prospective study of renal stone recurrences. Br J Urol 56:122–124CrossRef

Gambaro G, Vezzoli G, Casari G, Rampoldi L, D’Angelo A, Borghi L (2004) Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. Am J Kidney Dis 44:963–986CrossRef

Kittanamongkolchai W, Vaughan LE, Enders FT, Dhondup T, Mehta RA, Krambeck AE, McCollough CH, Vrtiska TJ, Lieske JC, Rule AD (2018) The changing incidence and presentation of urinary stones over 3 decades. Mayo Clin Proc 93:291–299CrossRef

Frymoyer PA, Scheinman SJ, Dunham PB, Jones DB, Hueber P, Schroeder ET (1991) X-linked recessive nephrolithiasis with renal failure. N Engl J Med 325:681–686CrossRef

Worcester EM, Coe FL, Evan AP, Parks JH (2006) Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis. BJU Int 97:1285–1290CrossRef

Rule AD, Bergstralh EJ, Melton LJ 3rd, Li X, Weaver AL, Lieske JC (2009) Kidney stones and the risk for chronic kidney disease. Clin J Am Soc Nephrol 4:804–811CrossRef

Rule AD, Roger VL, Melton LJ 3rd, Bergstralh EJ, Li X, Peyser PA, Krambeck AE, Lieske JC (2010) Kidney stones associate with increased risk for myocardial infarction. J Am Soc Nephrol 21:1641–1644CrossRef

10.

Griffin DG (2004) A review of the heritability of idiopathic nephrolithiasis. J Clin Pathol 57:793–796CrossRef

11.

Thorleifsson G, Holm H, Edvardsson V, Walters GB, Styrkarsdottir U, Gudbjartsson DF, Sulem P, Halldorsson BV, de Vegt F, d’Ancona FC et al (2009) Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nat Genet 41:926–930CrossRef

12.

Curhan GC, Willett WC, Rimm EB, Stampfer MJ (1997) Family history and risk of kidney stones. J Am Soc Nephrol 8:1568–1573PubMed

13.

Lieske JC, Turner ST, Edeh SN, Smith JA, Kardia SL (2014) Heritability of urinary traits that contribute to nephrolithiasis. Clin J Am Soc Nephrol 9:943–950CrossRef

14.

Trinchieri A, Mandressi A, Luongo P, Coppi F, Pisani E (1988) Familial aggregation of renal calcium stone disease. J Urol 139:478–481CrossRef

15.

Rudan I, Padovan M, Rudan D, Campbell H, Biloglav Z, Janicjevic B, Smolej-Narancic N, Rudan P (2002) Inbreeding and nephrolithiasis in Croatian island isolates. Coll Antropol 26:11–21PubMed

16.

Sayer JA (2017) Progress in understanding the genetics of calcium-containing nephrolithiasis. J Am Soc Nephrol 28:748–759CrossRef

17.

Parks JH, Coward M, Coe FL (1997) Correspondence between stone composition and urine supersaturation in nephrolithiasis. Kidney Int 51:894–900CrossRef

18.

Caudarella R, Malavolta N, Rizzoli E, Stefani F, D’Antuono G (1986) Idiopathic calcium urolithiasis: genetic aspects. Ann Med Interne (Paris) 137:200–202

19.

Tessier J, Petrucci M, Trouve ML, Valiquette L, Guay G, Ouimet D, Bonnardeaux A (2001) A family-based study of metabolic phenotypes in calcium urolithiasis. Kidney Int 60:1141–1147CrossRef

20.

Loredo-Osti JC, Roslin NM, Tessier J, Fujiwara TM, Morgan K, Bonnardeaux A (2005) Segregation of urine calcium excretion in families ascertained for nephrolithiasis: evidence for a major gene. Kidney Int 68:966–971CrossRef

21.

Monga M, Macias B, Groppo E, Hargens A (2006) Genetic heritability of urinary stone risk in identical twins. J Urol 175:2125–2128CrossRef

22.

Holmes RP, Assimos DG, Goodman HO (1998) Genetic and dietary influences on urinary oxalate excretion. Urol Res 26:195–200CrossRef

23.

Corre T, Olinger E, Harris SE, Traglia M, Ulivi S, Lenarduzzi S, Belge H, Youhanna S, Tokonami N, Bonny O et al (2017) Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine. Pflugers Arch 469:91–103CrossRef

24.

Taylor EN, Fung TT, Curhan GC (2009) DASH-style diet associates with reduced risk for kidney stones. J Am Soc Nephrol 20:2253–2259CrossRef

25.

Sorensen MD, Hsi RS, Chi T, Shara N, Wactawski-Wende J, Kahn AJ, Wang H, Hou L, Stoller ML, Women’s Health Initiative Writing G (2014) Dietary intake of fiber, fruit and vegetables decreases the risk of incident kidney stones in women: a Women’s Health Initiative report. J Urol 192:1694–1699CrossRef

26.

Tracy CR, Best S, Bagrodia A, Poindexter JR, Adams-Huet B, Sakhaee K, Maalouf N, Pak CY, Pearle MS (2014) Animal protein and the risk of kidney stones: a comparative metabolic study of animal protein sources. J Urol 192:137–141CrossRef

27.

Nouvenne A, Meschi T, Prati B, Guerra A, Allegri F, Vezzoli G, Soldati L, Gambaro G, Maggiore U, Borghi L (2010) Effects of a low-salt diet on idiopathic hypercalciuria in calcium-oxalate stone formers: a 3-mo randomized controlled trial. Am J Clin Nutr 91:565–570CrossRef

28.

Lieske JC, Tremaine WJ, De Simone C, O’Connor HM, Li X, Bergstralh EJ, Goldfarb DS (2010) Diet, but not oral probiotics, effectively reduces urinary oxalate excretion and calcium oxalate supersaturation. Kidney Int 78:1178–1185CrossRef

29.

Goldfarb DS, Coe FL (1999) Beverages, diet, and prevention of kidney stones. Am J Kidney Dis 33:398–400 (discussion 401–393)CrossRef

30.

de Castro JM (1993) Genetic influences on daily intake and meal patterns of humans. Physiol Behav 53:777–782CrossRef

31.

van den Berg L, Henneman P, Willems van Dijk K, Delemarre-van de Waal HA, Oostra BA, van Duijn CM, Janssens AC (2013) Heritability of dietary food intake patterns. Acta Diabetol 50:721–726CrossRef

32.

Lieske JC, Turner ST, Edeh SN, Ware EB, Kardia SL, Smith JA (2016) Heritability of dietary traits that contribute to nephrolithiasis in a cohort of adult sibships. J Nephrol 29:45–51CrossRef

33.

Peacock M (2010) Calcium metabolism in health and disease. Clin J Am Soc Nephrol 5(Suppl 1):S23–S30CrossRef

34.

Assimos DG (2016) Re: altered calcium and vitamin D homeostasis in first-time calcium kidney stone-formers. J Urol 195:658–659PubMed

35.

Shakhssalim N, Gilani KR, Parvin M, Torbati PM, Kashi AH, Azadvari M, Golestan B, Basiri A (2011) An assessment of parathyroid hormone, calcitonin, 1,25 (OH)2 vitamin D3, estradiol and testosterone in men with active calcium stone disease and evaluation of its biochemical risk factors. Urol Res 39:1–7CrossRef

36.

Taylor EN, Hoofnagle AN, Curhan GC (2015) Calcium and phosphorus regulatory hormones and risk of incident symptomatic kidney stones. Clin J Am Soc Nephrol 10:667–675CrossRef

37.

Ferraro PM, Taylor EN, Gambaro G, Curhan GC (2017) Vitamin D intake and the risk of incident kidney stones. J Urol 197:405–410CrossRef

38.

Malihi Z, Wu Z, Stewart AW, Lawes CM, Scragg R (2016) Hypercalcemia, hypercalciuria, and kidney stones in long-term studies of vitamin D supplementation: a systematic review and meta-analysis. Am J Clin Nutr 104:1039–1051CrossRef

39.

Wjst M, Altmuller J, Braig C, Bahnweg M, Andre E (2007) A genome-wide linkage scan for 25-OH-D(3) and 1,25-(OH)2-D3 serum levels in asthma families. J Steroid Biochem Mol Biol 103:799–802CrossRef

40.

Engelman CD, Fingerlin TE, Langefeld CD, Hicks PJ, Rich SS, Wagenknecht LE, Bowden DW, Norris JM (2008) Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans. J Clin Endocrinol Metab 93:3381–3388CrossRef

41.

Karohl C, Su S, Kumari M, Tangpricha V, Veledar E, Vaccarino V, Raggi P (2010) Heritability and seasonal variability of vitamin D concentrations in male twins. Am J Clin Nutr 92:1393–1398CrossRef

42.

Bathum L, Fagnani C, Christiansen L, Christensen K (2004) Heritability of biochemical kidney markers and relation to survival in the elderly—results from a Danish population-based twin study. Clin Chim Acta 349:143–150CrossRef

43.

Whitfield JB, Martin NG (1984) The effects of inheritance on constituents of plasma: a twin study on some biochemical variables. Ann Clin Biochem 21:176–183CrossRef

44.

Hunter DJ, Lange M, Snieder H, MacGregor AJ, Swaminathan R, Thakker RV, Spector TD (2002) Genetic contribution to renal function and electrolyte balance: a twin study. Clin Sci (Lond) 103:259–265CrossRef

45.

Moulin F, Ponte B, Pruijm M, Ackermann D, Bouatou Y, Guessous I, Ehret G, Bonny O, Pechere-Bertschi A, Staessen JA et al (2017) A population-based approach to assess the heritability and distribution of renal handling of electrolytes. Kidney Int 92:1536–1543CrossRef

46.

Zimmet P, Magliano D, Matsuzawa Y, Alberti G, Shaw J (2015) The metabolic syndrome: a global public health problem and a new definition. J Atheroscler Thromb 12:295–300CrossRef

47.

Rendina D, De Filippo G, D’Elia L, Strazzullo P (2014) Metabolic syndrome and nephrolithiasis: a systematic review and meta-analysis of the scientific evidence. J Nephrol 27:371–376PubMed

48.

Wong Y, Cook P, Roderick P, Somani BK (2016) Metabolic syndrome and kidney stone disease: a systematic review of literature. J Endourol 30:246–253CrossRef

49.

Mosli HA, Mosli HH, Kamal WK (2013) Kidney stone composition in overweight and obese patients: a preliminary report. Res Rep Urol 5:11–15PubMedPubMedCentral

50.

Lee SC, Kim YJ, Kim TH, Yun SJ, Lee NK, Kim WJ (2008) Impact of obesity in patients with urolithiasis and its prognostic usefulness in stone recurrence. J Urol 179:570–574CrossRef

51.

Wang X, Krambeck AE, Williams JC Jr, Tang X, Rule AD, Zhao F, Bergstralh E, Haskic Z, Edeh S, Holmes DR 3rd et al (2014) Distinguishing characteristics of idiopathic calcium oxalate kidney stone formers with low amounts of Randall’s plaque. Clin J Am Soc Nephrol 9:1757–1763CrossRef

52.

Cappuccio FP, Strazzullo P, Mancini M (1990) Kidney stones and hypertension: population based study of an independent clinical association. BMJ 300:1234–1236CrossRef

53.

Borghi L, Meschi T, Guerra A, Briganti A, Schianchi T, Allegri F, Novarini A (1999) Essential arterial hypertension and stone disease. Kidney Int 55:2397–2406CrossRef

54.

Cupisti A, D’Alessandro C, Samoni S, Meola M, Egidi MF (2014) Nephrolithiasis and hypertension: possible links and clinical implications. J Nephrol 27:477–482CrossRef

55.

van Dongen J, Willemsen G, Chen WM, de Geus EJ, Boomsma DI (2013) Heritability of metabolic syndrome traits in a large population-based sample. J Lipid Res 54:2914–2923CrossRef

56.

Maes HH, Neale MC, Eaves LJ (1997) Genetic and environmental factors in relative body weight and human adiposity. Behav Genet 27:325–351CrossRef

57.

Elks CE, den Hoed M, Zhao JH, Sharp SJ, Wareham NJ, Loos RJ, Ong KK (2012) Variability in the heritability of body mass index: a systematic review and meta-regression. Front Endocrinol (Lausanne) 3:29CrossRef

58.

Pilia G, Chen WM, Scuteri A, Orru M, Albai G, Dei M, Lai S, Usala G, Lai M, Loi P et al (2006) Heritability of cardiovascular and personality traits in 6,148 Sardinians. PLoS Genet 2(8):e132CrossRef

59.

Zarkesh M, Daneshpour MS, Faam B, Fallah MS, Hosseinzadeh N, Guity K, Hosseinpanah F, Momenan AA, Azizi F (2012) Heritability of the metabolic syndrome and its components in the Tehran Lipid and Glucose Study (TLGS). Genet Res (Camb) 94:331–337CrossRef

60.

McCarthy JJ (2007) Gene by sex interaction in the etiology of coronary heart disease and the preceding metabolic syndrome. Nutr Metab Cardiovasc Dis 17:153–161CrossRef

61.

Snieder H, van Doornen LJ, Boomsma DI (1997) The age dependency of gene expression for plasma lipids, lipoproteins, and apolipoproteins. Am J Hum Genet 60:638–650PubMedPubMedCentral

Titel: Heritable traits that contribute to nephrolithiasis
verfasst von: John C. Lieske
Xiangling Wang
Publikationsdatum: 20.11.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Urolithiasis / Ausgabe 1/2019
Print ISSN: 2194-7228
Elektronische ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-018-1095-1

Neu im Fachgebiet Urologie

25.04.2024 | Nierenkarzinom | Nachrichten

Update Urologie

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

Newsletter bestellen

Springer Medizin

Heritable traits that contribute to nephrolithiasis

Abstract

Neu im Fachgebiet Urologie

Adjuvante Immuntherapie verlängert Leben bei RCC

Bei Senioren mit Prostatakarzinom auf Anämie achten!

Stufenschema weist Prostatakarzinom zuverlässig nach

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Update Urologie

Springer Medizin

Abstract

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

Weitere Artikel der Ausgabe 1/2019

Molecular basis of primary hyperoxaluria: clues to innovative treatments

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

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms

Urinary proteome in inherited nephrolithiasis

Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules

Inherited proximal tubular disorders and nephrolithiasis

Neu im Fachgebiet Urologie

Adjuvante Immuntherapie verlängert Leben bei RCC

Bei Senioren mit Prostatakarzinom auf Anämie achten!

Stufenschema weist Prostatakarzinom zuverlässig nach

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Update Urologie