Article
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.
Pediatric nephrology (Berlin, Germany) - 1 Jul 2011
Baskin Esra, Selda Bayrakci Umut, Alehan Füsun, Ozdemir Handan, Oner Ayse, Horvath Rita, Vega-Warner Virginia, Hildebrandt Friedhelm, Ozaltin Fatih
Abstract excerpt
Renal manifestations of mitochondrial cytopathies have been described, but nephrotic syndrome with respiratory-chain disorders have been described extremely rarely. We report a 9-month-old boy with a mitochondrial cytopathy preceded by a 2-month history of steroid-resistant nephrotic syndrome. Percutaneous renal biopsy revealed diffuse mesangial sclerosis, and mutational analysis was compatible with PLCE1...
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