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01.12.2018 | Case report | Ausgabe 1/2018 Open Access

BMC Nephrology 1/2018

Maternally inherited diabetes and deafness complicated by mesangial galactose-deficient IgA1 deposits: a case report

BMC Nephrology > Ausgabe 1/2018
Keiji Sugai, Hiroyuki Ueda, Keita Morimoto, Mai Tanaka, Daisuke Takahashi, Akio Nakashima, Junichiro Kato, Hiroshi Takahashi, Yutaka Yamaguchi, Tetsuya Kawamura, Kazushige Hanaoka, Yoichi Miyazaki, Takashi Yokoo



Maternally inherited diabetes and deafness (MIDD), a mitochondrial genetic disorder, typically affects the kidneys and results in end-stage renal disease. Early diagnosis of MIDD is challenging when renal manifestations precede other key clinical features such as diabetes and deafness and/or when the disease is complicated by other renal pathologies.

Case presentation

Here, we present the case of a 33-year-old Japanese woman who had initially been diagnosed with IgA nephropathy but was found to have MIDD 6 years later. Two renal biopsies were conducted six years apart. While assessment of the first biopsy specimen with the monoclonal antibody (KM55) revealed mesangial IgA deposits (containing the galactose-deficient IgA1 variant [Gd-IgA1]), examination of the second specimen showed no mesangial IgA deposits and newly-developed glomerular global scleroses and tubular damage. Granular swollen epithelial cells (GSECs), characterised by abnormal mitochondria, were observed among the tubules and collecting ducts in both biopsy specimens. Mitochondrial DNA analysis revealed an m.3243A > G mutation.


We rediscovered the usefulness of GSECs as a pathologically distinctive feature of mitochondrial nephropathy and reviewed the literature regarding MIDD complicated by mesangial IgA deposition. Furthermore, we demonstrate that the mesangial IgA deposits in this patient consisted of the galactose-deficient IgA1 variant. The monoclonal antibody (KM55) might be a useful tool to distinguish IgAN from latent IgA deposits.
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