When to suspect a genetic disorder in a patient with renal stones, and why

Nephrology Dialysis Transplantation

Volumn 28, Issue 4, 2013, Pages 811-820

  Ferraro, Pietro Manuel ^a   D'Addessi, Alessandro ^b   Gambaro, Giovanni ^a  

^a Division of Nephrology   (Italy)

^b FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

cystinuria; Dihydroxyadeninuria; hyperoxaluria; Mendelian inheritance; renal stones

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE; CALCIUM SENSING RECEPTOR; CLAUDIN 16; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MEMBRANE COFACTOR PROTEIN; PHOSPHORIBOSYL PYROPHOSPHATE SYNTHASE; SODIUM PHOSPHATE COTRANSPORTER 2A; SODIUM PHOSPHATE COTRANSPORTER 2C; TRANSFERASE; UNCLASSIFIED DRUG; XANTHINE OXIDASE;

ARTICLE; CLINICAL FEATURE; CRYSTALLURIA; CYSTINURIA; DENT DISEASE; DIHYDROXYADENINURIA; DISEASE SEVERITY; ENZYME DEFICIENCY; EXTRACORPOREAL LITHOTRIPSY; FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; FAMILY HISTORY; GENETIC DISORDER; HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA; HUMAN; HYPERCALCIURIA; HYPOCALCEMIC HYPERCALCIURIA; HYPOPHOSPHATEMIC NEPHROLITHIASIS WITH OSTEOPOROSIS; HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; KIDNEY FAILURE; KIDNEY TUBULE ACIDOSIS; KIDNEY TUBULE DISORDER; NEPHRECTOMY; NEPHROLITHIASIS; ONSET AGE; OXALOSIS 1; PHOSPHORIBOSYL PYROPHOSPHATE SYNTHASE HYPERACTIVITY; PREVALENCE; PRIMARY HYPEROXALURIA TYPE 2; PRIMARY HYPEROXALURIA TYPE 3; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; RISK ASSESSMENT; STONE FORMATION; X RAY DIFFRACTION; XANTHINURIA;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; NEPHROLITHIASIS;

EID: 84875978761     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfs545     Document Type: Article

References (61)

1. Croppi E, Ferraro PM, Taddei L et al. Prevalence of renal stones in an Italian urban population: a general practice-based study. Urol Res 2012; 40: 517-522
2. Gambaro G, Reis-Santos JM, Rao N. Nephrolithiasis: why doesn't our 'learning' progress? Eur Urol 2004; 45: 547-556; discussion 556 (Pubitemid 38481679)
3. Gambaro G, Vezzoli G, Casari G et al. Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. Am J Kidney Dis 2004; 44: 963-986 (Pubitemid 39556477)
4. Vezzoli G, Soldati L, Gambaro G. Hypercalciuria revisited: one or many conditions? Pediatr Nephrol 2008; 23: 503-506 (Pubitemid 351356454)
5. Spasovski G, Beck BB, Blau N et al. Late diagnosis of primary hyperoxaluria after failed kidney transplantation. Int Urol Nephrol 2010; 42: 825-829
6. Cochat P, Deloraine A, Rotily M et al. Epidemiology of primary hyperoxaluria type 1. Societe de Nephrologie and the Societe de Nephrologie Pediatrique. Nephrol Dial Transplant 1995; 10 (Suppl 8): 3-7
7. Jungers P, Joly D, Blanchard A et al. Inherited monogenic kidney stone diseases: recent diagnostic and therapeutic advances. Nephrol Ther 2008; 4: 231-255 (Pubitemid 351885533)
8. Hoppe B, Leumann E, Milliner D. Urolithiasis and nephrocalcinosis in childhood. In: Geary D, Schaefer F (eds). Comprehensive Pediatric Nephrology. Philadelphia: Mosby Elsevier; 2008
9. Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int 2009; 75: 1264-1271
10. Gambaro G, Favaro S, D'Angelo A. Risk for renal failure in nephrolithiasis. Am J Kidney Dis 2001; 37: 233-243 (Pubitemid 32116015)
11. Gillen DL, Worcester EM, Coe FL. Decreased renal function among adults with a history of nephrolithiasis: a study of NHANES III. Kidney Int 2005; 67: 685-690 (Pubitemid 40139861)
12. Saucier NA, Sinha MK, Liang KV et al. Risk factors for CKD in persons with kidney stones: a case-control study in Olmsted County, Minnesota. Am J Kidney Dis 2010; 55: 61-68
13. Tosetto E, Graziotto R, Artifoni L et al. Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. J Hum Genet 2006; 51: 25-30 (Pubitemid 43162248)
14. Rule AD, Krambeck AE, Lieske JC. Chronic kidney disease in kidney stone formers. Clin J Am Soc Nephrol 2011; 6: 2069-2075
15. Muller D, Kausalya PJ, Meij IC et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail. Hum Mol Genet 2006; 15: 1049-1058
16. Lieske JC, Monico CG, Holmes WS et al. International registry for primary hyperoxaluria. Am J Nephrol 2005; 25: 290-296 (Pubitemid 41202753)
17. van Woerden CS, Groothoff JW, Wijburg FA et al. Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis. Clin Chem 2007; 53: 1553-1555 (Pubitemid 47206357)
18. Edvardsson V, Palsson R, Olafsson I et al. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am J Kidney Dis 2001; 38: 473-480 (Pubitemid 32803056)
19. Nasr SH, Sethi S, Cornell LD et al. Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrol Dial Transplant 2010; 25: 1909-1915
20. Pearce S, Williamson C, Kifor O et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calciums-sensing receptor. N Engl J Med 1996; 335: 1115-1122 (Pubitemid 26330965)
21. Monico CG, Milliner DS. Genetic determinants of urolithiasis. Nat Rev Nephrol 2011; 8: 151-162
22. Hoppe B, Kemper MJ. Diagnostic examination of the child with urolithiasis or nephrocalcinosis. Pediatr Nephrol 2010; 25: 403-413
23. Cramer B, Husa L, Pushpanathan C. Nephrocalcinosis in rabbits-correlation of ultrasound, computed tomography, pathology and renal function. Pediatr Radiol 1998; 28: 9-13 (Pubitemid 28055099)
24. Wrong OM, Norden AG, Feest TG. 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 1994; 87: 473-493 (Pubitemid 24243467)
25. Scheinman SJ. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 1998; 53: 3-17 (Pubitemid 28066897)
26. Caruana RJ, Buckalew VM, Jr. The syndrome of distal (type 1) renal tubular acidosis. Clinical and laboratory findings in 58 cases. Medicine (Baltimore) 1988; 67: 84-99
27. Resnick M, Pridgen DB, Goodman HO. Genetic predisposition to formation of calcium oxalate renal calculi. N Engl J Med 1968; 278: 1313-1318
28. Curhan G, Willett W, Rimm E et al. Family history and risk of kidney stones. J Am Soc Nephrol 1997; 8: 1568-1573 (Pubitemid 27496475)
29. Bittles AH. Endogamy, consanguinity and community disease profiles. Community Genet 2005; 8: 17-20 (Pubitemid 40529171)
30. Ombra MN, Forabosco P, Casula S et al. Identification of a new candidate locus for uric acid nephrolithiasis. Am J Hum Genet 2001; 68: 1119-1129 (Pubitemid 32424411)
31. Nimmannit S, Malasit P, Susaengrat W et al. Prevalence of endemic distal renal tubular acidosis and renal stone in the northeast of Thailand. Nephron 1996; 72: 604-610
32. Cochat P, Pichault V, Bacchetta J et al. Nephrolithiasis related to inborn metabolic diseases. Pediatr Nephrol 2010; 25: 415-424
33. Lorenzo V, Alvarez A, Torres A et al. Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience. Kidney Int 2006; 70: 1115-1119 (Pubitemid 44344082)
34. Praga M, Vara J, Gonzalez-Parra E et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 1995; 47: 1419-1425
35. Gambaro G, Lidestri V, Gerunda GE et al. Liver-kidney-transplantation in type 1 primary hyperoxaluria: description and comments on a case. Clin Nephrol 2000; 53(Suppl): 35-37 (Pubitemid 30204953)
36. Weber S, Schneider L, Peters M et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2001; 12: 1872-1881 (Pubitemid 32801362)
37. Bruce LJ, Unwin RJ, Wrong O et al. The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene. Biochem Cell Biol 1998; 76: 723-728 (Pubitemid 29318167)
38. Karet FE, Finberg KE, Nelson RD et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999; 21: 84-90 (Pubitemid 29036289)
39. Laing CM, Toye AM, Capasso G et al. Renal tubular acidosis: developments in our understanding of the molecular basis. Int J Biochem Cell Biol 2005; 37: 1151-1161 (Pubitemid 40381191)
40. Bolino A, Devoto M, Enia G et al. Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. Eur J Hum Genet 1993; 1: 269-279
41. Tencza AL, Ichikawa S, Dang A et al. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodiumphosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. J Clin Endocrinol Metab 2009; 94: 4433-4438
42. Prie D, Huart V, Bakouh N et al. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 2002; 347: 983-991
43. Rendina D, Mossetti G, De Filippo G et al. Fibroblast growth factor 23 is increased in calcium nephrolithiasis with hypophosphatemia and renal phosphate leak. J Clin Endocrinol Metab 2006; 91: 959-963 (Pubitemid 43357765)
44. Martens K, Heulens I, Meulemans S et al. Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet 2007; 15: 1029-1033 (Pubitemid 47491457)
45. Becker MA, Puig JG, Mateos FA et al. Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. Am J Med 1988; 85: 383-390
46. European Association of Urology. Guidelines on Urolithiasis. www.uroweb.org/gls/pdf/18-Urolithiasis.pdf
47. Pak CY, Poindexter JR, Adams-Huet B et al. Predictive value of kidney stone composition in the detection of metabolic abnormalities. Am J Med 2003; 115: 26-32 (Pubitemid 36831118)
48. Hesse A. Urinary calculi. 1: Epidemiology, laboratory diagnosis, genetics and infections. Urologe A 2002; 41: 496-506; quiz 507-508
49. Dello Strologo L, Rizzoni G. Cystinuria. Acta Paediatr Suppl 2006; 95: 31-33 (Pubitemid 43995535)
50. Daudon M, Jungers P, Bazin D. Peculiar morphology of stones in primary hyperoxaluria. N Engl J Med 2008; 359: 100-102 (Pubitemid 351931124)
51. Daudon M, Jungers P, Lacour B. Clinical value of crystalluria study. Ann Biol Clin (Paris) 2004; 62: 379-393
52. Eggermann T, Zerres K, Nunes V et al. Clinical utility gene card for: cystinuria. Eur J Hum Genet 2012; 20, doi: 10.1038/ejhg.2011.163. [Epub ahead of print August 24, 2011]
53. Ceballos-Picot I, Perignon JL, Hamet M et al. 2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease. Lancet 1992; 339: 1050-1051
54. Di Pietro V, Perruzza I, Amorini AM et al. Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure. Clin Biochem 2007; 40: 73-80 (Pubitemid 46014164)
55. Torres RJ, Puig JG, Ceballos-Picot I. Clinical utility gene card for: Lesch-Nyhan syndrome. Eur J Hum Genet 2011; 19: preceeding 118-120
56. Monico CG, Rossetti S, Schwanz HA et al. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. J Am Soc Nephrol 2007; 18: 1905-14 (Pubitemid 46870327)
57. Rumsby G, Williams E, Coulter-Mackie M. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int 2004; 66: 959-63 (Pubitemid 39120998)
58. Orphanet website. http://www.orpha.net/consor/cgi-bin/index. php
59. Monico CG, Rossetti S, Belostotsky R et al. Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin J Am Soc Nephrol 2011; 6: 2289-2295
60. Devuyst O, Thakker RV. Dent's disease. Orphanet J Rare Dis 2010; 5: 28
61. Stechman MJ, Loh NY, Thakker RV. Genetic causes of hypercalciuric nephrolithiasis. Pediatr Nephrol 2009; 24: 2321-2332