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      Severe Hypomagnesemia and Hypoparathyroidism in Kearns-Sayre Syndrome

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          Abstract

          Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary retinal degeneration, plus at least one of the following: complete heart block, cerebellar dysfunction and CSF protein >100 mg/dl. Autopsies from patients with KSS revealed widespread tissue distribution of mitochondrial (mt) DNA deletions. These deletions result in significantly lower activities of the enzymes of the respiratory chain. KSS has been associated with a variety of endocrine and metabolic disorders in <10% of patients, while renal tubular involvement is extremely rare. We present an 18-year-old girl with KSS who developed hypoparathyroidism and renal tubular dysfunction with inappropriate mangesiuria and kaliuria. We further discuss the renal tubular damage in KSS emphasizing its pathophysiology and clinical phenotype, and review the possible mechanisms of hypoparathyroidism in KSS.

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          Author and article information

          Journal
          AJN
          Am J Nephrol
          10.1159/issn.0250-8095
          American Journal of Nephrology
          S. Karger AG
          0250-8095
          1421-9670
          2001
          April 2001
          07 May 2001
          : 21
          : 2
          : 150-153
          Affiliations
          aDepartment Internal Medicine and bLaboratory of Biochemistry, University Hospital of Ioannina, Greece
          Article
          46239 Am J Nephrol 2001;21:150–153
          10.1159/000046239
          11359024
          © 2001 S. Karger AG, Basel

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          Page count
          Tables: 2, References: 11, Pages: 4
          Product
          Self URI (application/pdf): https://www.karger.com/Article/Pdf/46239
          Categories
          Case Report

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