{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:13:56Z","timestamp":1789758836933,"version":"4.0.1"},"reference-count":24,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,2]]},"abstract":"Summary<\/jats:title>\n \n Background and objectives<\/jats:title>\n \n The 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\n CLDN19<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Design, setting, participants, & measurements<\/jats:title>\n \n Medical records of three patients from two French unrelated families with\n CLDN19<\/jats:italic>\n mutations were retrospectively examined.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Direct sequencing of\n CLDN19<\/jats:italic>\n 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\n CLDN16<\/jats:italic>\n -related nephropathy: low serum Mg\n 2+<\/jats:sup>\n (<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 Ca\n 2+<\/jats:sup>\n \/K\n +<\/jats:sup>\n channelopathy (pattern V) were observed in two of three individuals. These features persisted despite the normalization of serum K\n +<\/jats:sup>\n and Mg\n 2+<\/jats:sup>\n after renal transplantation.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Ocular 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\n CLDN19<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.2215\/cjn.02870310","type":"journal-article","created":{"date-parts":[[2010,10,29]],"date-time":"2010-10-29T00:20:23Z","timestamp":1288311623000},"page":"355-360","source":"Crossref","is-referenced-by-count":30,"title":["Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 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