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Proximal renal tubular acidosis due to mitochondrial cytopathy: A case report

Pathak, Sethi, Gupta, Ranasaria
2014 IJRRMS   unpublished
Proximal renal tubular acidosis (P-RTA) occurs in mulple inherited metabolic condions; one of them is Mitochondrial disorder. Pearson syndrome, a type of mitochondrial cytopathy, presents with mull system involvement in the form of progressive external ophthalmoplegia, proximal myopathy, seizures, ataxia, stroke,renal tubular dysfuncon, hepaac, endocrine failure and sideroblassc anemia. Clinical features are variable due to heteroplasmy. L;iterature search shows that fewer than hundred cases
more » ... an hundred cases have been reported so far. This case is being reported because of its rarity wherein even though the genec study was not possible, the clinical features and invesgaons were suggesve of mitrochondrial cytopathy-Pearson syndrome changing to Kearn Sayre Syndrome (KSS).