Neonatal hemochromatosis
Classification according to ICD-10 | |
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E83.1 | Iron metabolism disorders hemochromatosis |
ICD-10 online (WHO version 2019) |
The neonatal hemochromatosis is an extremely rare with about 100 described case studies (sporadic and siblings) occurring form of hemochromatosis . Iron storage disease shows itself in newborn children as a polyetiological acute inflammation of the liver ( hepatitis ) with cholestasis . With a few exceptions, it is fatal .
root cause
Neonatal hemochromatosis is an independent liver disease in the newborn. It has nothing in common with the familial form as it is a completely different pathomechanism. The disease is caused by the formation of antibodies of the mother against antigens of the child on the surface of the child's hepatocytes. It is therefore an alloimmune hepatitis, similar to rhesus incompatibility. Since siblings of children with neonatal hemochromatosis have a high risk of developing the disease, a genetic cause of the disease was long suspected.
Prognosis, treatment
In particularly severe cases of neonatal hemochromatosis, in which iron deposits have formed in various organs, the child dies before birth ( in utero ). Children who survive pregnancy, if left untreated, usually die in the course of the first few weeks after birth in a hepatic coma, triggered by fulminant liver failure with liver necrosis . Since the pathomechanism was recognized in 2010, there have been initial reports of successful exchange transfusions in children with neonatal hemochromatosis. Many mothers who already had a child with neonatal hemochromatosis and thus had a very high risk of recurrence in subsequent pregnancies were successfully treated with immunoglobulins and had healthy children. Children with neonatal hemochromatosis, which cannot be influenced therapeutically, are now usually liver transplanted.
Differential diagnoses
In terms of differential diagnosis, neonatal hemochromatosis must be differentiated from alpha-1-antitrypsin deficiency , biliary atresia , Niemann-Pick syndrome type C, Zellweger syndrome and neonatal lupus erythematosus . Histology can help here in individual cases, but mostly shows the giant cell formation common in newborns with hepatopathy.
Common symptoms (prenatal)
- decreased child growth
- Disorders of the amount of amniotic fluid (usually oligohydramnios )
- Placental hypertrophy due to edema in placenta
- intrauterine ascites
Common symptoms (postpartum)
- Hypoglycemia
- persistent jaundice (progressive jaundice )
- Enlarged liver ( hepatomegaly )
- Liver failure
- neonatal cholestasis
- Alloimmune hepatitis
Since the disease is very rare overall, the classification as common symptoms is relative.
literature
- AS Knisely, D. Vergani: "Neonatal hemochromatosis": a re-vision. In: Hepatology (Baltimore, Md.). Volume 51, Number 6, June 2010, pp. 1888-1890, ISSN 1527-3350 . doi : 10.1002 / hep.23728 . PMID 20512982 .
Web links
- Neonatal hemochromatosis. In: Online Mendelian Inheritance in Man . (English).