French Retrospective Multicentric Study of Neonatal Hemochromatosis: Importance of Autopsy and Autoimmune Maternal Manifestations

被引:21
|
作者
Collardeau-Frachon, Sophie [1 ,2 ]
Heissat, Sophie [3 ]
Bouvier, Raymonde [1 ,2 ]
Fabre, Monique [4 ]
Baruteau, Julien [5 ]
Broue, Pierre [5 ]
Cordier, Marie-Pierre [6 ]
Debray, Dominique [7 ]
Debiec, Hanna [8 ]
Ronco, Pierre [8 ]
Guigonis, Vincent [9 ]
机构
[1] HCL, Hop Femme Mere Enfant, Dept Pathol, Lyon, France
[2] Univ Lyon 1, F-69365 Lyon, France
[3] HCL Lyon, Hop Femme Mere Enfant, Dept Pediat, Lyon, France
[4] Inst Gustave Roussy, Dept Pathol, Paris, France
[5] CHU Toulouse, Hop Purpan, Dept Pediat, Toulouse, France
[6] HCL Lyon, Hop Femme Mere Enfant, Dept Genet, Lyon, France
[7] APHP Paris, Hop Necker Enfants Malad, Dept Pediat, Paris, France
[8] APHP Paris, Hop Tenon, Dept Immunol & Nephrol, Paris, France
[9] CHU Limoges, Hop Mere & Enfant, Dept Pediat, Limoges, France
关键词
autoimmune diseases; alloimmunization; fetus; histology; liver diseases; neonatal hemochromatosis; DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY; RENAL TUBULAR DYSGENESIS; FETAL LIVER-DISEASE; MITOCHONDRIAL-DNA DEPLETION; SALIVARY-GLAND BIOPSY; PERINATAL HEMOCHROMATOSIS; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; TRANSALDOLASE DEFICIENCY; TISSUE SIDEROSIS; HEPATIC-FAILURE;
D O I
10.2350/12-02-1155-OA.1
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Neonatal hemochromatosis is a rare disease that causes fetal loss and neonatal death in the 1st weeks of life and is one of the most common causes of liver failure in the neonate. The diagnosis is mostly made retrospectively, based on histopathologic features of severe liver fibrosis associated with hepatic and extrahepatic siderosis. Several etiologies may underlie this phenotype, including a recently hypothesized gestational alloimmune disease. Fifty-one cases of liver failure with intrahepatic siderosis in fetuses and neonates were analyzed retrospectively. Maternal and infant data were collected from hospitalization and autopsy reports. All available slides were reviewed independently by 3 pathologists. Immunologic studies were performed on maternal sera collected immediately after delivery. The diagnosis of neonatal haemochromatosis was retained in 33 cases, including 1 case with Down syndrome and 1 case with myofibromas. Liver siderosis was inversely proportional to fibrosis progression. In fetuses, iron storage was more frequent in the thyroid than in the pancreas. Perls staining in labial salivary glands was positive in 1 of 5 cases. Abnormal low signal intensity by magnetic resonance imaging was detected in the pancreas in 2 of 7 cases. Renal tubular dysgenesis was observed in 7 of 23 autopsy cases. Chronic villitis was seen in 7 of 15 placentas. Half of the mothers presented with an autoimmune background and/or autoantibodies in their sera. Our work highlights the importance of autopsy in cases of neonatal hemochromatosis and marshals additional data in support of the hypothesis that neonatal hemochromatosis could reflect maternal immune system dysregulation.
引用
收藏
页码:450 / 470
页数:21
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