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Pediatric Nephrology
Published in: Pediatric Nephrology 11/2015

01-11-2015 | Clinical Quiz

A boy with proteinuria and focal global glomerulosclerosis: Answers

Authors: Sidharth Kumar Sethi, Edgar A. Otto, Sara Ma, Rajan Duggal, Virginia Vega-Warner, Vijay Kher

Published in: Pediatric Nephrology | Issue 11/2015

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Excerpt

1.
Dent’s disease
 
2.
Mutational analysis of the CLCN5 gene (H+/Cl− exchange transporter 5)
 
3.
Citrate supplementation and thiazides
 
…
Literature
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Scheinman SJ (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53:3–17CrossRefPubMed
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Murakami T, Kawakami H (1990) The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: A survey of 53 patients. Clin Nephrol 33:12–19PubMed
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Valina MR, Larsen CP, Kanosky S, Suchy SF, Nield LS, Onder AM (2013) A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis. Clin Nephrol 80:377–384CrossRefPubMed
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Langlois V, Chantale B, Scheinman SJ, Thakker RV, Cox JP, Goodyer PR (1998) Clinical features of X-linked nephrolithiasis in childhood. Pediatr Nephrol 12:625–629CrossRefPubMed
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Cramer MT, Charlton JR, Fogo AB, Fathallah-Shaykh SA, Askenazi DJ, Guay-Woodford LM (2014) Expanding the phenotype of proteinuria in Dent disease. A case series. Pediatr Nephrol. doi:10.​1007/​s00467-014-2824-5
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Balgoun RA, Adams ND, Palmisano J, Yamase H, Chughtai I, Kaplan AA (2002) Focal segmental glomerulosclerosis, proteinuria and nephrocalcinosis associated with renal tubular acidosis. Nephrol Dial Transplant 17:308–310CrossRef
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Copelovitch L, Nash MA, Kaplan BS (2007) Hypothesis: Dent’s disease is an underrecognized cause of focal glomerulosclerosis. Clin J Am Soc Nephrol 2:914–918CrossRefPubMed
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Bonfante L, Davis PA, Spinello M, Antonello A, D’Angelo A, Semplicini A, Calo L (2001) Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman’s syndrome. Am J Kidney Dis 38:165–168CrossRefPubMed
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Buissou F, Barthe P, Pierragi MT (1980) Severe idiopathic nephrotic syndrome with tubular dysfunction (report of nine cases). Clin Nephrol 14:135–141
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McVicar M, Exeni R, Susin M (1980) Nephrotic syndrome and multiple tubular defects in children: An early sign of focal segmental glomerulosclerosis. J Pediatr 97:918–922CrossRefPubMed
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Cebotaru V, Kaul S, Devuyst O, Cai H, Racusen L, Guggino WB, Guggino SE (2005) High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent’s disease. Kidney Int 68:642–652CrossRefPubMed
Metadata
Title
A boy with proteinuria and focal global glomerulosclerosis: Answers
Authors
Sidharth Kumar Sethi
Edgar A. Otto
Sara Ma
Rajan Duggal
Virginia Vega-Warner
Vijay Kher
Publication date
01-11-2015
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 11/2015
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-014-2961-x

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