Neonatal Hemochromatosis, Renal Tubular Dysgenesis, and Hypocalvaria in a Neonate |
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Authors: | Jasbir S Johal James W Thorp Calvin E Oyer |
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Institution: | (1) Program in Developmental Pathology, Brown University School of Medicine and Women and Infants Hospital, 101 Dudley Street, Providence, RI 02905, USA , US;(2) Department of Pediatrics, Brown University School of Medicine and Women and Infants Hospital, 101 Dudley Street, Providence, RI 02905, USA , US |
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Abstract: | We report a neonate with neonatal hemochromatosis (NH), renal tubular dysgenesis (RTD), and hypocalvaria. NH is a fatal condition
of the newborn, characterized by severe idiopathic liver failure of intrauterine onset and siderosis, intra- and extrahepatic,
with sparing of the reticuloendothelial system. RTD is characterized by short, abnormally developed cortical tubules that
lack proximal tubule differentiation. Although both NH and RTD have been reported as entities with a genetic component, similar
findings can be secondary to in utero insults. Hypocalvaria has been reported in association with fetal hypoxia including
that secondary to angiotensin converting enzyme inhibitors. This 38-week-old infant died at 8.5 h. The small nodular liver
weighed 44 g. Grossly, the kidneys were normal. Hypocalvaria was present. Microscopically, the hepatic parenchyma was distorted
by fibrous tracts, proliferation of bile ducts, and abundant iron deposition in hepatocytes. Extrahepatic siderosis in the
pancreas, myocardium, and other organs was consistent with NH. Proximal convoluted tubules were not seen on routine stains
and markers for proximal tubules were negative. Previous reports have linked NH with RTD and RTD with hypocalvaria. This infant
had all three of these rare conditions, which have been hypothesized or shown to be due to genetic factors, hypoxia, or drugs.
The etiology in this case is unknown.
Received May 20, 1997; accepted August 15, 1997. |
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Keywords: | : neonatal hemochromatosis renal tubular dysgenesis hypocalvaria neonate proximal convoluted tubules |
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