Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy without Symptomatic Other Organ Involvement
نویسندگان
چکیده
منابع مشابه
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Primary coenzyme Q(10) (CoQ(10)) deficiency includes a group of rare autosomal recessive disorders primarily characterized by neurological and muscular symptoms. Rarely, glomerular involvement has been reported. The COQ2 gene encodes the para-hydroxybenzoate-polyprenyl-transferase enzyme of the CoQ(10) synthesis pathway. We identified two patients with early-onset glomerular lesions that harbor...
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S b es itochondrial diseases are a heterogeneous group of energy metabolism disorders hat can affect almost any organ. Kidney disease s well-known in patients with mitochondrial isorders, most commonly manifesting as proxial tubulopathy with chronic tubular acidosis, ypically a minor feature in pediatric patients ith severe involvement of brain, liver, heart, or ther organs. Other renal present...
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ژورنال
عنوان ژورنال: Kidney International Reports
سال: 2021
ISSN: 2468-0249
DOI: 10.1016/j.ekir.2021.05.042