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

Martinovici, Dana; Ransy, Valérie; Eijnden, Serge Vanden; Ridremont, Céline; Pardou, Anne; Cassart, Marie; Avni, Freddy; Donner, Cathérine; Lingier, Pierre; Mathieu, Anne; Gulbis, Béatrice; Brouckère, Véronique De; Cnop, Miriam; Abramowicz, Marc; Désir, Julie

doi:10.1016/j.ejmg.2009.10.004

Cited by 27 publications

(34 citation statements)

References 12 publications

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“…39 In cases of trisomy 21, transient megakaryocytic leukemia may explain the NH phenotype. For the other diseases, fetal liver injury resulting in impaired regulation of placental iron flux is hypothesized to cause NH.…”

Section: Causes Of Neonatal Hemochromatosis Phenotype Other Than Gestmentioning

confidence: 99%

Neonatal Hemochromatosis

Feldman

Whitington

2013

Journal of Clinical and Experimental Hepatology

105

116

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Section: Causes Of Neonatal Hemochromatosis Phenotype Other Than Gestmentioning

confidence: 99%

Neonatal Hemochromatosis

Feldman

Whitington

2013

Journal of Clinical and Experimental Hepatology

105

116

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“…The diagnosis of Martinez-Frias syndrome can be suspected when a baby from consanguineous parents shows the association of digestive tract atresias, neonatal diabetes mellitus, biliary atresia and growth restriction [13,14]. Neonatal hemosiderosis had not been reported so far in this syndrome, but this feature may have been overlooked [15].…”

Section: Discussionmentioning

confidence: 97%

Fetal liver iron overload: the role of MR imaging

et al. 2010

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Objective To assess the potential role of MR imaging in the diagnosis of fetal liver iron overload. Methods We reviewed seven cases of abnormal liver signal in fetuses referred to MR imaging in a context of suspected congenital infection (n=2), digestive tract anomalies (n=3) and hydrops fetalis (n=2). The average GA of the fetuses was 31 weeks. The antenatal diagnoses were compared with histological data (n=6) and postnatal work-up (n=1). Results Magnetic resonance imaging demonstrated unexpected abnormal fetal liver signal suggestive of iron overload in all cases. The iron overload was confirmed on postnatal biopsy (n=2) and fetopathology (n=4). The final diagnosis was hepatic hemosiderosis (haemolytic anaemia (n=2) and syndromal anomalies (n=2)) and congenital haemochromatosis (n=3). In all cases, the liver appeared normal on US.

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“…1 We have also confirmed this restricted expression in the adult human pancreas by real time PCR comparing islets to acinar tissues and ductal cell lines (not shown in original paper). This specific persistent expression, added to the presence of cases of glucose intolerance and diabetes mellitus type I, II or gestational in the probands' family members some of whom are obligate carriers of RFX6 mutations, 1,13 favors an essential role of RFX6 in the function of the mature islets. The RFX family members of transcription factors, RFX1-5, have been widely studied and shown to act as either activators or suppressors of transcription in a cell-type specific manner.…”

Section: Rfx6 In the Mature Pancreasmentioning

confidence: 99%

“…The process can be due to proliferation of existing mature cells, or neogenesis by trans-differentiation of exocrine cells or differentiation of existing precursors in the adult pancreas. 18,19 The presence of different types of diabetes in carriers of RFX6 mutations 1,13 raises the question about the need of RFX6 in the maintenance and regeneration of β-cell mass in the postnatal pancreas.…”

Section: Rfx6 and Generation Of New B-cellsmentioning

confidence: 99%