Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant

Abstract

We report the first surviving case of neonatal hemochromatosis with renal tubular dysgenesis. Renal failure was treated with peritoneal dialysis. Although hepatic failure from neonatal hemochromatosis was progressive, repeated exchange transfusions improved jaundice and coagulopathy. The patient gained weight and received a liver transplantation from her father.

Keywords: Liver transplantation; neonatal hemochromatosis; peritoneal dialysis; renal tubular dysgenesis.

Figure 1

The clinical course of selected laboratory parameters. PT-INR and D-Bil were improved by repeated exchange transfusion. The patient was able to gain weight because of internal medicines and liver transplantation. IVIG, intravenous immunoglobulin; D-Bil, direct bilirubin; PT-INR, prothrombin time/international normalized ratio.

Figure 2

Liver histopathology. (A) A marked loss of hepatocytes and cholestasis. The remaining hepatocytes were multinucleated (Hematoxylin and eosin, original magnification ×200). (B) Parenchymal fibrosis was extensive in most areas (Azan staining, original magnification ×100). (C) Distribution of siderosis. Iron staining was predominantly both inside and outside the hepatocytes (Berlin Blue staining, original magnification ×200).