Dent disease in children: Diagnostic and therapeutic considerations

Clinical Nephrology

Volumn 84, Issue 4, 2015, Pages 222-230

  Szczepańska, Maria ^a   Zaniew, Marcin ^b   Recker, Florian ^c   Mizerska Wasiak, Małgorzata ^d   Załuska Leśniewska, Iga ^e   Kiliś Pstrusinska, Katarzyna ^f   Adamczyk, Piotr ^a   Zawadzki, Jan ^g   Pawlaczyk, Krzysztof ^h   Ludwig, Michael ^c   Sikora, Przemysław ⁱ  

^a Dialysis Division for Children Department and Clinic of Pediatrics SMDZ in Zabrze SUM in Katowice ^*  (Poland)

^b Public Children's Hospital   (Poland)

^c UNIVERSITY OF BONN   (Germany)

^d MEDICAL UNIVERSITY OF WARSAW   (Poland)

^e MEDICAL UNIVERSITY OF GDANSK   (Poland)

^f WROCLAW MEDICAL UNIVERSITY   (Poland)

^g CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^h POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

ⁱ MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

CLCN5; Dent disease; Nephrocalcinosis; OCRL; Treatment

Indexed keywords

ENALAPRIL; GROWTH HORMONE; HYDROCHLOROTHIAZIDE; PHOSPHATE; POTASSIUM; SPIRONOLACTONE;

ADOLESCENT; ARTICLE; CHILD; CHILDHOOD DISEASE; CLCN5 GENE; CLINICAL ARTICLE; DENT DISEASE; GENE; GENE MUTATION; GROWTH RATE; GROWTH RETARDATION; HORMONAL THERAPY; HUMAN; HYPERCALCIURIA; HYPOKALEMIA; HYPONATREMIA; HYPOPHOSPHATEMIA; KIDNEY CALCIFICATION; KIDNEY FAILURE; MALE; NEPHROLITHIASIS; OCRL GENE; PRESCHOOL CHILD; PROTEINURIA; RICKETS; SCHOOL CHILD; COMPLICATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DENT DISEASE; HUMANS; MALE;

EID: 84944029361     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CN108522     Document Type: Article

References (34)

1. Sekine T, Komoda F, Miura K, Takita J, Shimadzu M, Matsuyama T, Ashida A, Igarashi T. Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. Nephrol Dial Transplant. 2013; 0: 1-11. PubMed
2. Claverie-Martín F, Ramos-Trujillo E, García-Nieto V. Dent's disease: clinical features and molecular basis. Pediatr Nephrol. 2011; 26: 693-704. CrossRef PubMed
3. Copelovitch L, Nash MA, Kaplan BS. Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis. Clin J Am Soc Nephrol. 2007; 2: 914-918. CrossRef PubMed
4. Frishberg Y, Dinour D, Belostotsky R, Becker-Cohen R, Rinat C, Feinstein S, Navon-Elkan P, Ben-Shalom E. Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? Pediatr Nephrol. 2009; 24: 2369-2373. CrossRef PubMed
5. Cramer MT, Charlton JR, Fogo AB, Fathallah-Shaykh SA, Askenazi DJ, Guay-Woodford LM. Expanding the phenotype of proteinuria in Dent disease. A case series. Pediatr Nephrol. 2014; 29: 2051-2054. CrossRef PubMed
6. Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ. Evidence for genetic heterogeneity in Dent's disease. Kidney Int. 2004; 65: 1615-1620. CrossRef PubMed
7. Böckenhauer D, Bökenkamp A, Nuutinen M, Unwin R, van't HoffW, Sirimanna T, Vrljicak K, Ludwig M. Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genetics. 2012; 1: 15-23.
8. Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M. Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr. 2009; 155: 94-99. CrossRef PubMed
9. Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI. Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol. 2008; 23: 243-249. CrossRef PubMed
10. Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, ToenshoffB, Suchy SF, Nussbaum RL, Scheinman SJ. Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005; 76: 260-267. CrossRef PubMed
11. Kruse K, Kracht U, Göpfert G. Renal threshold phosphate concentration (TmPO4/GFR). Arch Dis Child. 1982; 57: 217-223. CrossRef PubMed
12. Schwartz GJ, Brion LP, Spitzer A. The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents. Pediatr Clin North Am. 1987; 34: 571-590. PubMed
13. Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S. Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. Hum Genet. 2005; 117: 228-237. CrossRef PubMed
14. Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M. Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis. 2006; 48: 942. e1-942.e14. CrossRef PubMed
15. Dinour D, Davidovitz M, Levin-Iaina N, Lotan D, Cleper R, Weissman I, Knecht A, Holtzman EJ. Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease. Nephron Clin Pract. 2009; 112: c262-c267. CrossRef PubMed
16. Grand T, Mordasini D, L'Hoste S, Pennaforte T, Genete M, Biyeyeme MJ, Vargas-Poussou R, Blanchard A, Teulon J, Lourdel S. Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing. Kidney Int. 2009; 76: 999-1005. Cross-Ref PubMed
17. Park E, Choi HJ, Lee JM, Ahn YH, Kang HG, Choi YM, Park SJ, Cho HY, Park YH, Lee SJ, Ha IS, Cheong HI. Muscle involvement in Dent disease 2. Pediatr Nephrol. 2014; 29: 2127-2132. CrossRef PubMed
18. Akuta N, Lloyd SE, Igarashi T, Shiraga H, Matsuyama T, Yokoro S, Cox JP, Thakker RV. Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney Int. 1997; 52: 911-916. CrossRef PubMed
19. Sekine T, Nozu K, Iyengar R, Fu XJ, Matsuo M, Tanaka R, Iijima K, Matsui E, Harita Y, Inatomi J, Igarashi T. OCRL1 mutations in patients with Dent disease phenotype in Japan. Pediatr Nephrol. 2007; 22: 975-980. CrossRef PubMed
20. Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ. OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron, Physiol. 2009; 112: 27-36. CrossRef PubMed
21. Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, Stringini G, Papalia T, Barbano G, Ghiggeri GM, Ruggeri L, Miglietti N, D'Angelo A, Melis MA, Anglani F. Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. Pediatr Nephrol. 2009; 24: 1967-1973. CrossRef PubMed
22. Tosetto E, Ghiggeri GM, Emma F, Barbano G, Carrea A, Vezzoli G, Torregrossa R, Cara M, Ripanti G, Ammenti A, Peruzzi L, Murer L, Ratsch IM, Citron L, Gambaro G, D'angelo A, Anglani F. Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study. Nephrol Dial Transplant. 2006; 21: 2452-2463. CrossRef PubMed
23. Carballo-Trujillo I, Garcia-Nieto V, Moya-Angeler FJ, Antón-Gamero M, Loris C, Méndez-Alvarez S, Claverie-Martin F. Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease. Nephrol Dial Transplant. 2003; 18: 717-723. CrossRef PubMed
24. Ramos-Trujillo E. Claverie-Martin F, Garcia-Nieto V, Ariceta G, Vara J, Gonzalez-Acosta H, Garcia-Ramirez M, Fons J, Cordoba-Lanus E, Gonzalez-Paredes J, Valenciano B, Ramos L, Muley R, Caggiani M, Alvarez-Estrada P, Madrid A, and for the RenalTube Group. Dent's disease: identification of seven new pathogenic mutations in the CLCN5 gene. J Pediatr Genetics. 2013; 2: 133-140.
25. Ramos-Trujillo E, Garcia-Nieto V, Gonzalez-Acosta H, Vara J, Pérez-Diaz V, Nadal I, Oliveros R, Claverie-Martin F. Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America. Clin Nephrol. 2007; 68: 367-372. CrossRef PubMed
26. Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MA, Santos F, Camacho JA, Claverie-Martín F. A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease. J Hum Genet. 2007; 52: 255-261. CrossRef PubMed
27. Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A. Hypercalciuria in patients with CLCN5 mutations. Pediatr Nephrol. 2006; 21: 1241-1250. CrossRef PubMed
28. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 1987; 15: 7155-7174. CrossRef PubMed
29. 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. Effect of hydrochlorothiazide on urinary calcium excretion in Dent disease: an uncontrolled trial. Am J Kidney Dis. 2008; 52: 1084-1095. CrossRef PubMed
30. Raja KA, Schurman S, D'mello RG, Blowey D, Goodyer P, Van Why S, Ploutz-Snyder RJ, Asplin J, Scheinman SJ. Responsiveness of hypercalciuria to thiazide in Dent's disease. J Am Soc Nephrol. 2002; 13: 2938-2944. CrossRef PubMed
31. Cebotaru V, Kaul S, Devuyst O, Cai H, Racusen L, Guggino WB, Guggino SE. High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease. Kidney Int. 2005; 68: 642-652. CrossRef PubMed
32. Samardzic M, Pavicevic S, Ludwig M, Bogdanovic R. Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report. J Med Case Reports. 2011; 5: 400. CrossRef PubMed
33. Sheffer-Babila S, Chandra M, Speiser PW. Growth hormone improves growth rate and preserves renal function in Dent disease. J Pediatr Endocrinol Metab. 2008; 21: 279-286. CrossRef PubMed
34. Allen DB. Safety of growth hormone treatment of children with idiopathic short stature: the US experience. Horm Res Paediatr. 2011; 76 (Suppl 3): 45-47. CrossRef PubMed