Edit this page in Wiki Genes or see Wiki Gene.
Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. Paper-8840146. These deletions result in significantly lower activities of the enzymes of the respiratory chain.
Autopsies from patients with KSS revealed widespread tissue distribution of mitochondrial (mt) DNA deletions. Paper-8840146.
KSS has been associated with a variety of endocrine and metabolic disorders in <10% of patients, while renal tubular involvement is extremely rare. Paper-8840146.
We present an 18-year-old girl with KSS who developed hypoparathyroidism and renal tubular dysfunction with inappropriate mangesiuria and kaliuria. Paper-8840146.
We further discuss the renal tubular damage in KSS emphasizing its pathophysiology and clinical phenotype, and review the possible mechanisms of hypoparathyroidism in KSS. Paper-8840146.
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. Paper-8840146.
Important links !
iHOP - Information Hyperlinked over Proteins .
Concept & Implementation by Robert Hoffmann.