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

作者：Martinovici Dana; Ransy Valerie; Vanden Eijnden Serge; Ridremont Celine; Pardou Anne; Cassart Marie; Avni Freddy; Donner Catherine; Lingier Pierre; Mathieu Anne; Gulbis Beatrice; De Brouckere Veronique; Cnop Miriam; Abramowicz Marc; Desir Julie^*

来源：European Journal of Medical Genetics, 2010, 53(1): 25-28.

DOI：10.1016/j.ejmg.2009.10.004

• Martinez-Frias syndrome
• Neonatal diabetes mellitus
• Monogenic diabetes
• Intestinal atresia
• Neonatal hemochromatosis

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.

• 出版日期2010-2