Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

Details

Serval ID
serval:BIB_94B9EB521841
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.
Journal
European Journal of Pediatrics
Author(s)
Superti-Furga A., Schoenle E., Tuchschmid P., Caduff R., Sabato V., DeMattia D., Gitzelmann R., Steinmann B.
ISSN
0340-6199 (Print)
ISSN-L
0340-6199
Publication state
Published
Issued date
1993
Volume
152
Number
1
Pages
44-50
Language
english
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Abstract
We report a patient with a clinical picture consisting of small birth weight, connatal hypoplastic anaemia, vacuolised bone marrow precursors, failure to thrive, and, subsequently, by insulin-dependent diabetes, renal Fanconi syndrome, lactic acidosis, complex organic aciduria, and elevation of haemoglobin F and of adenosine deaminase activity. The clinical course was progressive and death occurred at age 19 months. A high proportion of mitochondrial (mt) DNA molecules with a deletion of nucleotides 9238 to 15575 were identified in several tissues; about half of the shortened mtDNA molecules were concatenated to form circular dimers. The clinical and laboratory findings support recent conclusions that Pearson syndrome is not confined to bone marrow and pancreas, as originally described, but is a multi-organ disorder associated with deletions in part of the mtDNA molecules. The tissue distribution and the relative proportions of the abnormal mtDNA molecules apparently determine the phenotype and clinical course.
Keywords
Acidosis, Lactic/genetics, Anemia/genetics, Bone Marrow/abnormalities, DNA, Mitochondrial/genetics, Diabetes Mellitus, Type 1/genetics, Fanconi Syndrome/genetics, Female, Fetal Hemoglobin/analysis, Fetal Hemoglobin/genetics, Humans, Infant, Molecular Sequence Data, Pancreatic Diseases/genetics, Renal Aminoacidurias/genetics, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Syndrome
Pubmed
Web of science
Create date
14/03/2011 16:14
Last modification date
20/08/2019 14:57
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