ArticleClinical journal of the American Society of Nephrology : CJASN2011
Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 35 citations in OpenAlex.
- Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7-Year-Old Girl: A Case Report.Clinical case reports · 2025Article
- Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.PLoS genetics · 2025Article
- Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.Journal of nephrology · 2021Article
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Pediatric nephrology (Berlin, Germany) · 2021Review
- Netrin-1 as a Multitarget Barrier Stabilizer in the Peripheral Nerve after Injury.International journal of molecular sciences · 2021Article
- Claudins in Renal Physiology and Pathology.Genes · 2020Review
- Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function.Communications biology · 2019Article
- Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation.Clinical nephrology. Case studies · 2019Article
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.Clinical kidney journal · 2015Article
- Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.World journal of pediatrics : WJP · 2015Article
- Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.BMC nephrology · 2015Article
- Hereditary causes of kidney stones and chronic kidney disease.Pediatric nephrology (Berlin, Germany) · 2013Review
- Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.PloS one · 2013Article
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.Clinical journal of the American Society of Nephrology : CJASN · 2012Article
- Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation.Indian journal of nephrologyArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesThe objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Medical records of three patients from two French unrelated families with CLDN19 mutations were retrospectively examined.
resultsDirect sequencing of CLDN19 identified a known variant (p.Gly20Asp) in all patients and a new missense mutation (p.Val44Met) in one (compound heterozygous). The patients' renal phenotype closely mimicked CLDN16-related nephropathy: low serum Mg2+ (<0.65 mmol/L) despite oral supplementation, hypercalciuria partly thiazide-sensitive, and progressive renal decline with ESRD reached at age 16 and 22 years in two individuals. Primary characteristics (failure to thrive, recurrent urinary tract infections, or abdominal pain), age at onset (0.8 to 16 years), and rate of renal decline were highly heterogeneous. Ocular involvement was identified in all patients, although two patients did not have visual loss. Additionally, exercise intolerance with pain, weakness, and electromyographical alterations mimicking a Ca2+/K+ channelopathy (pattern V) were observed in two of three individuals. These features persisted despite the normalization of serum K+ and Mg2+ after renal transplantation.
conclusionsOcular manifestations, even subtle, and exercise intolerance mimicking mild to moderate periodic paralysis are two symptoms that need to be searched for in patients with FHHNC and may indicate CLDN19 mutations.
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