DELETION OF THE MITOCHONDRIAL-DNA IN A CASE OF DETONI-DEBRE-FANCONI-SYNDROME AND PEARSON-SYNDROME

被引：61

作者：

NIAUDET, P

HEIDET, L

MUNNICH, A

SCHMITZ, J

BOUISSOU, F

GUBLER, MC

ROTIG, A

机构：

[1] HOP NECKER ENFANTS MALAD,DEPT PEDIAT,INSERM,U12,UNITE RECH HANDICAPS GENET ENFANT,F-75743 PARIS 15,FRANCE

[2] HOP NECKER ENFANTS MALAD,INSERM,U192,UNITE RECH PHYSIOPATHOL & GENET NEPHROPATHIES ENFANT,F-75743 PARIS 15,FRANCE

[3] HOP PURPAN,SERV PEDIAT,TOULOUSE,FRANCE

来源：

PEDIATRIC NEPHROLOGY | 1994年 / 8卷 / 02期

关键词：

DETONI-DEBRE-FANCONI-SYNDROME; PEARSON SYNDROME;

D O I：

10.1007/BF00865468

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a patient with Pearson syndrome with failure to thrive, exocrine pancreas insufficiency, growth hormone deficiency and severe tubular dysfunction. The patient had no signs of liver involvement. Normal respiratory chain enzyme activity was found in the lymphocytes, but a mitochondrial DNA deletion was demonstrated in lymphocytes and in the kidney. Polymerase chain reaction amplification and sequence analysis revealed the presence of the 4,977 base pair ''common'' deletion in the mitochondrial genome. Our findings support the view that tubulopathies of unknown origin may be related to mitochondrial respiratory chain deficiency.

引用

页码：164 / 168

页数：5

共 18 条

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