Open AccessFocal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: Clinical pathological analysis
Author(s) -
Xueying Cao,
Ri-Bao Wei,
Yuanda Wang,
Xueguang Zhang,
Tang Li,
Xiangmei Chen
Publication year - 2013
Publication title -
indian journal of pathology and microbiology/indian journal of pathology and microbiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.217
H-Index - 31
eISSN - 0974-5130
pISSN - 0377-4929
DOI - 10.4103/0377-4929.120392
Subject(s) - medicine , proband , focal segmental glomerulosclerosis , diabetes mellitus , pathological , disease , pathology , proteinuria , endocrinology , mutation , kidney , genetics , biology , gene
Maternally inherited diabetes and deafness (MIDD), which is caused by an A to G substitution at position 3243 (m.3243A>G) in the transfer ribonucleic acid leucine gene, is characterized by diabetes and hearing loss. Patients with MIDD frequently have renal disease, which may precede the diagnosis of either diabetes or deafness or may be the sole manifestation of the m.3243A>G mutation. Recently, progressive renal failure was reported in adults, and a number of childhood cases of focal segmental glomerulosclerosis (FSGS) of MIDD have been reported. However, little is known about the glomerular lesions in FSGS in MIDD. In the present study, we reported two cases of FSGS associated with MIDD and studied the clinical features of the proband and her mother.