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.

Détails

ID Serval
serval:BIB_94B9EB521841
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
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.
Périodique
European Journal of Pediatrics
Auteur(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
Statut éditorial
Publié
Date de publication
1993
Volume
152
Numéro
1
Pages
44-50
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
14/03/2011 17:14
Dernière modification de la notice
03/03/2018 19:38
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