Chronic kidney disease caused by maternally inherited diabetes and deafness: a case report
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CASE REPORT
Chronic kidney disease caused by maternally inherited diabetes and deafness: a case report Kenta Tanaka1 · Toshinori Ueno1 · Maria Yoshida2 · Yuka Shimizu1 · Takahiko Ogawa1 · Takashi Nishisaka3 · Takashi Kurashige4 · Takao Masaki2 Received: 25 July 2020 / Accepted: 15 October 2020 © Japanese Society of Nephrology 2020
Abstract Maternally inherited diabetes and deafness (MIDD) is a mitochondrial genetic disorder with variable clinical presentations, which can delay its diagnosis. Herein, we report the case of a 57-year-old Japanese man with MIDD who developed chronic kidney disease. He developed proteinuria long before his diabetes and deafness; at the age of 36 years, a renal biopsy showed minor glomerular abnormality and electron microscopy showed mild mitochondrial degeneration in the distal tubular epithelial cells. Twenty years later, a second renal biopsy showed nephrosclerosis with interstitial fibrosis and arteriolar hyaline thickening, despite the absence of hypertension and relatively good glycemic control. Granular swollen epithelial cells were found in the medullary collecting duct epithelium. Electron microscopy showed accumulating mitochondria in podocytes and tubular cells, leading to the diagnosis of MIDD. A muscle biopsy also showed ragged-red fibers, despite the absence of muscle weakness. Mitochondrial DNA analysis revealed an m.3243A > G mutation, and taurine supplementation was initiated. Our findings suggest that mitochondrial dysfunction is mainly associated with progressive renal damage. Keywords Maternally inherited diabetes and deafness · Mitochondrial disease · Chronic kidney disease
Introduction Maternally inherited diabetes and deafness (MIDD) is a mitochondrial genetic disorder characterized by type 2 diabetes mellitus (DM) and hearing impairment. Abnormality in the mitochondrial (mt) DNA causes MIDD caused by defects in oxidative energy production. MIDD has variable clinical presentations, which can delay its diagnosis [1]. The m.3243A > G mutation in the mt tRNALeu(UUR) gene is the most common mutation found in MIDD, but this mutation is
* Toshinori Ueno tueno‑[email protected] 1
also found in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome [2]. Mitochondria are abundant in the kidney, especially in proximal tubules and glomerular epithelial cells [3]; mitochondrial dysfunction can cause renal damage. Renal diseases associated with mitochondrial cytopathy include focal segmental glomerulosclerosis (FSGS) and tubulointerstitial nephropathy [4, 5]. Such complications lead to the progression of chronic kidney disease (CKD) and end-stage kidney disease, which require renal replacement therapy [6, 7]. However, the mechanisms that underlie kidney heterogeneity and CKD progression in patients with mitochondrial disease are not well understood. Here we report a case of MIDD in a 57-year-old man with a m.3243 A > G mutation, who developed CKD. For this patient, two renal biopsies were conducted 20 years apart to confirm the progre
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