Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

Abstract Neonatal hemochromatosis is a heterogeneous disorder of iron metabolism characterized by hepatic failure and marked iron accumulation in liver and extrahepatic tissues. Autosomal recessive transmission is found in most cases. Neonatal hemochromatosis shares cellular features with the adult...

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Bibliographic Details
Published in:European journal of medical genetics 2010-01, Vol.53 (1), p.25-28
Main Authors: Martinovici, Dana, Ransy, Valérie, Vanden Eijnden, Serge, Ridremont, Céline, Pardou, Anne, Cassart, Marie, Avni, Freddy, Donner, Catherine, Lingier, Pierre, Mathieu, Anne, Gulbis, Béatrice, De Brouckère, Véronique, Cnop, Miriam, Abramowicz, Marc, Désir, Julie
Format: Article
Language:English
Subjects:
Adult
Consanguinity
Diabetes Mellitus - genetics
Fatal Outcome
Hemochromatosis - diagnosis
Hemochromatosis - genetics
Hemochromatosis - metabolism
Humans
Infant, Newborn
Intestinal atresia
Intestinal Atresia - genetics
Iron Metabolism Disorders - genetics
Liver - metabolism
Male
Martinez-Frias syndrome
Medical Education
Monogenic diabetes
Neonatal diabetes mellitus
Neonatal hemochromatosis
Pedigree
Syndrome
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Summary:Abstract Neonatal hemochromatosis is a heterogeneous disorder of iron metabolism characterized by hepatic failure and marked iron accumulation in liver and extrahepatic tissues. Autosomal recessive transmission is found in most cases. Neonatal hemochromatosis shares cellular features with the adult disease but is clinically and genetically distinct, the causal gene(s) being presently unknown. We report on a newborn from consanguineous parents who presented with multiple congenital anomalies and neonatal hemochromatosis. The syndrome consisted of intra-uterine growth retardation, intestinal atresia, gallbladder aplasia and diabetes mellitus, and fitted with the diagnosis of Martinez-Frias syndrome, a very rare autosomal recessive phenotype, the gene of which remains to be identified. We suggest that neonatal hemochromatosis may be part of the Martinez-Frias syndrome. Molecular analyses in this and other reported patients with the Martinez-Frias syndrome should shed light on gut development and iron metabolism.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2009.10.004