Mitochondrial Neurogastrointestinal Encephalomyopathy: A Nonrenal Indication for Peritoneal Dialysis

被引：3

作者：

Chandra, V. S. ^{[1
]}

Lakshmi, B. Sanggetha ^{[1
]}

Devi, S. V. V. Padmavathi ^{[2
]}

Praveen, N. ^{[1
]}

Sameera, N. S. ^{[1
]}

Reddy, A. S. ^{[1
]}

Ram, R. ^{[1
]}

Kumar, V. S. ^{[1
]}

机构：

[1] SVIMS, Dept Nephrol, Tirupati, Andhra Pradesh, India

[2] Vydehi Inst Med Sci & Res Ctr, Dept Med, Bengaluru, Karnataka, India

来源：

INDIAN JOURNAL OF NEPHROLOGY | 2018年 / 28卷 / 04期

关键词：

dCTP; dThd; dUrd; hemodialysis; mitochondrial neurogastrointestinal encephalomyopathy; peritoneal dialysis; thymidine phosphorylase deficiency;

D O I：

10.4103/ijn.IJN_404_17

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：310 / 313

页数：4

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