Pearson's syndrome presenting with Fanconi syndrome

被引：12

作者：

Gilbert, RD

Emms, M

机构：

[1] UNIV CAPE TOWN,ZA-7700 RONDEBOSCH,SOUTH AFRICA

[2] RED CROSS WAR MEM CHILDRENS HOSP,DEPT PAEDIAT PATHOL,RONDEBOSCH,SOUTH AFRICA

[3] RED CROSS WAR MEM CHILDRENS HOSP,DEPT PAEDIAT & CHILD HLTH,RONDEBOSCH,SOUTH AFRICA

来源：

ULTRASTRUCTURAL PATHOLOGY | 1996年 / 20卷 / 05期

关键词：

mitochondrial cytopathy; muscle; Pearson's syndrome; renal tubules; ultrastructure;

D O I：

10.3109/01913129609016351

中图分类号：

TH742 [显微镜];

学科分类号：

摘要：

A case of Pearson's marrow-pancreas syndrome is presented. The dominant clinical feature was a generalized disorder of proximal tubule function with severe renal magnesium wasting. Renal and muscle biopsies were performed and showed bizarre giant mitochondria.

引用

收藏

页码：473 / 475

页数：3

相关论文

共 7 条

[1] PEARSONS MARROW PANCREAS SYNDROME - A HISTOLOGICAL AND GENETIC-STUDY [J].

MORIKAWA, Y ;

MATSUURA, N ;

KAKUDO, K ;

HIGUCHI, R ;

KOIKE, M ;

KOBAYASHI, Y .

VIRCHOWS ARCHIV A-PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY, 1993, 423 (03) :227-231

[2] NEONATAL FANCONI-SYNDROME DUE TO DEFICIENCY OF COMPLEX III OF THE RESPIRATORY-CHAIN [J].

MORRIS, AAM ;

TAYLOR, RW ;

BIRCHMACHIN, MA ;

JACKSON, MJ ;

COULTHARD, MG ;

BINDOFF, LA ;

WELCH, RJ ;

HOWELL, N ;

TURNBULL, DM .

PEDIATRIC NEPHROLOGY, 1995, 9 (04) :407-411

[3] DELETION OF THE MITOCHONDRIAL-DNA IN A CASE OF DETONI-DEBRE-FANCONI-SYNDROME AND PEARSON-SYNDROME [J].

NIAUDET, P ;

HEIDET, L ;

MUNNICH, A ;

SCHMITZ, J ;

BOUISSOU, F ;

GUBLER, MC ;

ROTIG, A .

PEDIATRIC NEPHROLOGY, 1994, 8 (02) :164-168

[4] NEW SYNDROME OF REFRACTORY SIDEROBLASTIC ANEMIA WITH VACUOLIZATION OF MARROW PRECURSORS AND EXOCRINE PANCREATIC DYSFUNCTION [J].

PEARSON, HA ;

LOBEL, JS ;

KOCOSHIS, SA ;

NAIMAN, JL ;

WINDMILLER, J ;

LAMMI, AT ;

HOFFMAN, R ;

MARSH, JC .

JOURNAL OF PEDIATRICS, 1979, 95 (06) :976-984

[5] PEARSON MARROW PANCREAS SYNDROME - A MULTISYSTEM MITOCHONDRIAL DISORDER IN INFANCY [J].

ROTIG, A ;

CORMIER, V ;

BLANCHE, S ;

BONNEFONT, JP ;

LEDEIST, F ;

ROMERO, N ;

SCHMITZ, J ;

RUSTIN, P ;

FISCHER, A ;

SAUDUBRAY, JM ;

MUNNICH, A .

JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (05) :1601-1608

[6] MOLECULAR AND GENETIC ANALYSES OF 2 PATIENTS WITH PEARSON MARROW-PANCREAS SYNDROME [J].

SANO, T ;

BAN, K ;

ICHIKI, T ;

KOBAYASHI, M ;

TANAKA, M ;

OHNO, K ;

OZAWA, T .

PEDIATRIC RESEARCH, 1993, 34 (01) :105-110

[7] MITOCHONDRIAL-DNA DELETION - A CAUSE OF CHRONIC TUBULOINTERSTITIAL NEPHROPATHY [J].

SZABOLCS, MJ ;

SEIGLE, R ;

SHANSKE, S ;

BONILLA, E ;

DIMAURO, S ;

DAGATI, V .

KIDNEY INTERNATIONAL, 1994, 45 (05) :1388-1396