ArticlePediatric nephrology (Berlin, Germany)2006
Hypercalciuria in patients with CLCN5 mutations.
Article in Pediatric nephrology (Berlin, Germany), 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Dent disease: clinical practice recommendations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Guideline
- Urinary Acidification Does Not Explain the Absence of Nephrocalcinosis in a Mouse Model of Familial Hypomagnesaemia with Hypercalciuria and Nephrocalcinosis (FHHNC).International journal of molecular sciences · 2024Article
- A 5-year-old boy with refractory rickets, polyuria, and hypokalemic metabolic alkalosis: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- A NovelJournal of pediatric genetics · 2019Article
- Inherited proximal tubular disorders and nephrolithiasis.Urolithiasis · 2019Review
- Dent disease in Poland: what we have learned so far?International urology and nephrology · 2017Article
- Dent disease: SameIntractable & rare diseases research · 2017Article
- The oculocerebrorenal syndrome of Lowe: an update.Pediatric nephrology (Berlin, Germany) · 2016Review
- Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.The Journal of pediatrics · 2016Article
- Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease.Italian journal of pediatrics · 2015Article
- Clinical utility gene card for: Dent disease (Dent-1 and Dent-2).European journal of human genetics : EJHG · 2014Article
- A patient with nephrotic-range proteinuria and focal global glomerulosclerosis.Clinical journal of the American Society of Nephrology : CJASN · 2013Article
- An unusual DMSA scan: answer.Pediatric nephrology (Berlin, Germany) · 2012Article
- Dent's disease: clinical features and molecular basis.Pediatric nephrology (Berlin, Germany) · 2011Article
- Dent's disease.Orphanet journal of rare diseases · 2010Review
- Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.Clinical journal of the American Society of Nephrology : CJASN · 2008Article
- Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report.Case reports in nephrology and dialysisArticle
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypercalciuria is regarded as a characteristic symptom of Dent disease, an X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, nephrocalcinosis/nephrolithiasis, and progressive renal failure due to mutations in the CLCN5 gene. As the presence of hypercalciuria may affect the decision to consider a CLCN5 mutation in the differential diagnosis, the phenotypic spectrum and the relative frequency of hypercalciuria in patients with CLCN5 mutations was determined. We assessed renal calcium excretion in 34 male patients with proven CLCN5 mutations, who had been referred because of LMW proteinuria and at least one additional symptom of Dent disease. Hypercalciuria was defined as renal calcium excretion exceeding 0.1 mmol/kg per day. Data obtained were compared with all series of CLCN5-positive patients identified by a systematic literature survey. In 7 of our 19 families, at least 1 affected male had normal calcium excretion. Hypercalciuria was observed in 22 of 31 patients tested (71%) compared to 85 of 90 (94.4%) in series from Europe and North America and 74.4% from Japan. LMW proteinuria was present in all CLCN5-positive patients; 25% of the patients in European and North American series, 45% of the Japanese, and 41% in the present series had only two of the four principal symptoms of Dent disease. Therefore, a CLCN5 mutation should be considered irrespective of the presence of hypercalciuria in a patient with LMW proteinuria and one additional symptom of Dent disease.
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