PEARSONS MARROW PANCREAS SYNDROME - HEMATOLOGICAL FEATURES ASSOCIATED WITH DELETION AND DUPLICATION OF MITOCHONDRIAL-DNA

被引：31

作者：

SMITH, OP ^{[1
]}

HANN, IM ^{[1
]}

WOODWARD, CE ^{[1
]}

BROCKINGTON, M ^{[1
]}

机构：

[1] UNIV LONDON,INST NEUROL,DEPT CLIN NEUROL,LONDON,ENGLAND

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1995年 / 90卷 / 02期

基金：

英国惠康基金;

关键词：

PEARSONS SYNDROME; MITOCHONDRIAL DNA; SIDEROBLASTIC ANEMIA;

D O I：

10.1111/j.1365-2141.1995.tb05178.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Pearson's marrow/pancreas syndrome (PS) is a rare, often fatal, disorder of infancy that is characterized by impaired bone marrow, exocrine pancreatic, hepatic and renal function. Large-scale rearrangements of mitochondrial DNA (mtDNA) are present in blood. We report a patient with PS who has predominantly impaired haemopoiesis manifesting as sideroblastic anaemia, vacuolization of bone marrow precursors, and neutropenia. 77% of bone marrow mtDNA was rearranged (64% deleted an 13% duplicated). We suggest that rearrangements of mtDNA should be sought in all infants presenting with sideroblastic anaemia.

引用

页码：469 / 472

页数：4

共 12 条

[11] SYNDROME OF REFRACTORY SIDEROBLASTIC ANEMIA WITH VACUOLIZATION OF MARROW PRECURSORS AND EXOCRINE PANCREATIC DYSFUNCTION PRESENTING IN THE NEONATE [J].

STODDARD, RA ;

MCCURNIN, DC ;

SHULTENOVER, SJ ;

WRIGHT, JE ;

DELEMOS, RA .

JOURNAL OF PEDIATRICS, 1981, 99 (02) :259-261

[12] PEARSON BONE MARROW-PANCREAS SYNDROME WITH INSULIN-DEPENDENT DIABETES, PROGRESSIVE RENAL TUBULOPATHY, ORGANIC ACIDURIA AND ELEVATED FETAL HEMOGLOBIN CAUSED BY DELETION AND DUPLICATION OF MITOCHONDRIAL-DNA [J].

SUPERTIFURGA, A ;

SCHOENLE, E ;

TUCHSCHMID, P ;

CADUFF, R ;

SABATO, V ;

DEMATTIA, D ;

GITZELMANN, R ;

STEINMANN, B .

EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (01) :44-50

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