Open AccessMitochondrial neurogastrointestinal encephalomyopathy: A nonrenal indication for peritoneal dialysis
Author(s) -
VS Chandra,
B Sanggetha Lakshmi,
S. V. V Padmavathi Devi,
Praveen Nagula,
N Sai Sameera,
A.S. Krishna Reddy,
R Ram,
V Siva Kumar
Publication year - 2018
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/ijn.ijn_404_17
Subject(s) - medicine , wasting , leukoencephalopathy , peritoneal dialysis , peripheral neuropathy , hemodialysis , dialysis , gastroenterology , bioinformatics , pathology , endocrinology , biology , diabetes mellitus , disease
Mitochondrial neurogastrointestinal encephalomyopathy is a rare autosomal recessive disorder characterized by severe muscle wasting, gastrointestinal dysmotility, leukoencephalopathy, peripheral neuropathy, and ophthalmoplegia. The pathogenesis involves the accumulation of very high concentrations of nucleosides dThd and dUrd along with depletion of nucleotide dCTP. One of the treatment measures is the removal of nucleosides dThd and dUrd by hemodialysis and peritoneal dialysis. Only a few patient reports of dialysis as a measure to remove nucleosides had been reported.