Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion

被引：4

作者：

Unal, S

Kalkanoglu, HS ^{[1
]}

Kocaefe, C

Gueer, S

Ozen, S

Turanli, G

Coskun, T

机构：

[1] Univ Hacettepe, Fac Med, Dept Pediat Nutr & Metab, TR-06100 Ankara, Turkey

[2] Univ Hacettepe, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey

[3] Univ Hacettepe, Fac Med, Dept Pediat, Pediat Pathol Unit, TR-06100 Ankara, Turkey

[4] Univ Hacettepe, Fac Med, Pediat Nephrol Unit, TR-06100 Ankara, Turkey

[5] Univ Hacettepe, Fac Med, Pediat Neurol Unit, TR-06100 Ankara, Turkey

[6] Univ Hacettepe, Fac Med, Dept Pediat, TR-06100 Ankara, Turkey

来源：

JOURNAL OF CHILD NEUROLOGY | 2005年 / 20卷 / 01期

关键词：

D O I：

10.1177/08830738050200011304

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we report the case of a 4-month-old Turkish girl with a mitochondrial DNA deletion and focal segmental glomeruloselerosis.

引用

页码：83 / 84

页数：2

共 8 条

[1]

BRUN P, 1992, JOURNEES PARISIENNES, P227

[2] Renal failure from mitochondrial cytopathies [J].

Buemi, M ;

Allegra, A ;

Rotig, A ;

Gubler, MC ;

Aloisi, C ;

Corica, F ;

Pettinato, G ;

Frisina, N ;

Niaudet, P .

NEPHRON, 1997, 76 (03) :249-253

[3] Focal segmental glomerulosclerosis associated with mitochondrial cytopathy [J].

Doleris, LM ;

Hill, GS ;

Chedin, P ;

Nochy, D ;

Bellanne-Chantelot, C ;

Hanslik, T ;

Bedrossian, J ;

Caillat-Zucman, S ;

Cahen-Varsaux, J ;

Bariety, J .

KIDNEY INTERNATIONAL, 2000, 58 (05) :1851-1858

[4] Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation [J].

Hotta, O ;

Inoue, CN ;

Miyabayashi, S ;

Furuta, T ;

Takeuchi, A ;

Taguma, Y .

KIDNEY INTERNATIONAL, 2001, 59 (04) :1236-1243

[5]

Mochizuki H, 1996, CLIN NEPHROL, V46, P347

[6] The kidney in mitochondrial cytopathies [J].

Niaudet, P ;

Rotig, A .

KIDNEY INTERNATIONAL, 1997, 51 (04) :1000-1007

[7]

SHOFFNER JM, CURRENT PROTOCOLS HU

[8] FAMILIAL MITOCHONDRIAL ENCEPHALOMYOPATHY (MERRF) - GENETIC, PATHOPHYSIOLOGICAL, AND BIOCHEMICAL-CHARACTERIZATION OF A MITOCHONDRIAL-DNA DISEASE [J].

WALLACE, DC ;

ZHENG, XX ;

LOTT, MT ;

SHOFFNER, JM ;

HODGE, JA ;

KELLEY, RI ;

EPSTEIN, CM ;

HOPKINS, LC .

CELL, 1988, 55 (04) :601-610

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