Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis

Clinical Journal of the American Society of Nephrology

Volumn 11, Issue 4, 2016, Pages 664-672

  Braun, Daniela Anne ^a   Lawson, Jennifer Ashley ^a   Gee, Heon Yung ^a,b   Halbritter, Jan ^a,c   Shril, Shirlee ^a   Tan, Weizhen ^a   Stein, Deborah ^a   Wassner, Ari J ^a   Ferguson, Michael A ^a   Gucev, Zoran ^d   Fisher, Brittany ^a   Spaneas, Leslie ^a   Varner, Jennifer ^a   Sayer, John A ^e   Milosevic, Danko ^f   Baum, Michelle ^a   Tasic, Velibor ^d   Hildebrandt, Friedhelm ^a,g  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b Yonsei University College of Medicine   (South Korea)

^c UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^d SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f KBC Zagreb   (Croatia)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Child; Dominant; Europe; Exons; Genes; Genetic renal disease; Humans; Hypercalciuria; Kidney stones; Mutation; Nephrocalcinosis

Indexed keywords

ADENYLATE CYCLASE 10; ALANINE GLOXYLATE AMINOTRANSFERASE; CLAUDIN 16; CLAUDIN 19; COLECALCIFEROL 24 HYDROXYLASE; CYSTINE, DIBASIC AND NEUTRAL AMINO ACID TRANSPORTERS,ACTIVATOR OF CYSTINE,DIBASIC, AND NEUTRAL AMINOACID TRANSPORT; NHE3, CATION PROTON ANTIPORTER 3; PEPTIDES AND PROTEINS; PROTEIN ATPASE, H+TRANSPORTING,LYSOSOMAL V0 SUBUNIT A4; PROTEIN ATPASE, H+TRANSPORTING,V1 SUBUNIT B1; SODIUM PHOSPHATE COTRANSPORTER 2A; SODIUM POTASSIUM CHLORIDE COTRANSPORTER 2; SOLUTE CARRIER FAMILY 4; UNCLASSIFIED DRUG; VITAMIN D RECEPTOR;

ADULT; ARTICLE; DOMINANT GENE; FEMALE; GENDER; GENE MUTATION; HIGH THROUGHPUT SEQUENCING; HUMAN; KIDNEY CALCIFICATION; MAJOR CLINICAL STUDY; MALE; MONOGENIC DISORDER; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; PREVALENCE; ADOLESCENT; CHILD; GENETICS; INFANT; MUTATION; NEPHROCALCINOSIS; PRESCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MUTATION; NEPHROCALCINOSIS; NEPHROLITHIASIS; PREVALENCE;

EID: 85011578573     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.07540715     Document Type: Article

References (37)

1. Dwyer ME, Krambeck AE, Bergstralh EJ, Milliner DS, Lieske JC, Rule AD: Temporal trends in incidence of kidney stones among children: a 25-year population based study. JUrol 188: 247–252, 2012
2. Hunter DJ, Lange M, Snieder H, MacGregor AJ, Swaminathan R, Thakker RV, Spector TD: Genetic contribution to renal function and electrolyte balance: a twin study. Clin Sci (Lond) 103: 259–265, 2002
3. Goldfarb DS, Fischer ME, Keich Y, Goldberg J: A twin study of genetic and dietary influences on nephrolithiasis: a report from the Vietnam Era Twin (VET) Registry. Kidney Int 67: 1053–1061, 2005
4. 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: Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J AmSoc Nephrol 26: 543–551, 2015
5. Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA: High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet 49: 756–767, 2012
6. Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group: Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet 132: 865–884, 2013
7. Sadowski, CE, Lovric, S, Ashraf, S, Pabst, WL, Gee, HY, Kohl, S, Engelmann, S, Vega-Warner, V, Fang, H, Halbritter, J, Somers, MJ, Tan, W, Shril, S, Fessi, I, Lifton, RP, Bockenhauer, D, El-Desoky, S, Kari, JA, Zenker, M, Kemper, MJ, Mueller, D, Fathy, HM, Soliman, NA, Hildebrandt, F: A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol 26: 1279–1289, 2015.
8. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods 7: 248–249, 2010
9. Kumar P, Henikoff S, Ng PC: Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073–1081, 2009
10. Schwarz JM, Cooper DN, Schuelke M, Seelow D: MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11: 361–362, 2014
11. Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, Pak CY: Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. J Clin Endocrinol Metab 87: 1476–1485, 2002
12. Purdue PE, Allsop J, Isaya G, Rosenberg LE, Danpure CJ: Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc Natl Acad Sci U S A 88: 10900–10904, 1991
13. Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE: Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 26: 71–75, 2000
14. 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: Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21: 84–90, 1999
15. 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: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335: 1115–1122, 1996
16. Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP: Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 285: 103–106, 1999
17. Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Hum Genet 8: 414–422, 2000
18. Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S: Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 79: 949–957, 2006
19. Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M: Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 365: 410–421, 2011
20. Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL: Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet 42: 748–755, 1988
21. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183–188, 1996
22. Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H: Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 417: 447–452, 2002
23. Prié D, Huart V, Bakouh N, Planelles G, Dellis O, Gérard B, Hulin P, Benqué-Blanchet F, Silve C, Grandchamp B, Friedlander G: Nephrolithiasis and osteoporosis associated with hypo-phosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 347: 983–991, 2002
24. Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, Barceló P, Estivill X, Zorzano A, Nunes V, Palacín M: Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 6: 420–425, 1994
25. Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ: Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 100: 1693–1707, 1997
26. Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium: Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet 23: 52–57, 1999
27. Karim Z, Gérard B, Bakouh N, Alili R, Leroy C, Beck L, Silve C, Planelles G, Urena-Torres P, Grandchamp B, Friedlander G,Prié D: NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med 359: 1128–1135, 2008
28. Scott P, Ouimet D, Valiquette L, Guay G, Proulx Y, Trouvé ML, Gagnon B, Bonnardeaux A: Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation. J Am Soc Nephrol 10: 1007–1013, 1999
29. Wagner CA, Rubio-Aliaga I, Biber J, Hernando N: Genetic diseases of renal phosphate handling. Nephrol Dial Transplant 29[Suppl 4]: iv45–iv54, 2014
30. Lapointe JY, Tessier J, Paquette Y, Wallendorff B, Coady MJ, Pichette V, Bonnardeaux A: NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak. Kidney Int 69: 2261– 2267, 2006
31. Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K: A loss-of-function mutation in NaPi-IIa and renal Fanconi’s syndrome. N Engl J Med 362: 1102–1109, 2010
32. Ferraro PM, D’Addessi A, Gambaro G: When to suspect a genetic disorder in a patient with renal stones, and why. Nephrol Dial Transplant 28: 811–820, 2013
33. Pearle MS, Goldfarb DS, Assimos DG, Curhan G, Denu-Ciocca CJ, Matlaga BR, Monga M, Penniston KL, Preminger GM, Turk TM, White JR; American Urological Association: Medical management of kidney stones: AUA guideline. J Urol 192: 316–324, 2014
34. Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 39: 796–803, 2002
35. Bisceglia L, Calonge MJ, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V: Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. Hum Genet 98: 447–451, 1996
36. Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft Pädiatrische Nephrologie: The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. Urol Res 32: 75–78, 2004
37. Tasic V, Lozanovski VJ, Korneti P, Ristoska-Bojkovska N, Sabolic-Avramovska V, Gucev Z, Ludwig M: Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatr Nephrol 26: 557–562, 2011