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Two male siblings (a boy aged 2 years 10 months at death and a male fetus aborted in gestational week 22) showed similar brain and kidney malformations, comprising paraventricular heterotopias, central canal abnormalities (including hydrocephalus in the boy), and glomerular kidney disease with proteinuria. There were no known hereditary diseases in the families of the parents, and there was one healthy sibling of either sex. The malformations thus seem to be hereditary in an autosomal or possibly X linked recessive fashion. [ABSTRACT FROM AUTHOR]

The lysosomal enzyme, β- hexosaminidase (Hex), was studied in full-term human placentas and in renal tissue using monoclonal antibodies raised against Hex purified from human placentas. The immunohistochemical reaction for Hex was pronounced in trophoblastic cells and macrophages of the basal plate and the smooth chorion, but was faint or negative in the amnion as well as in the syncytiotrophoblast and Hofbauer cells of the chorionic villi. The maternal decidual cells of the basal plate were negative. Biochemical enzyme analysis showed the highest activity in basal plate cells (containing trophoblast, decidual cells, macrophages and neutrophils) and a low activity in the chorionic villi. Placental tissue was less positive with monoclonal antibodies specific for Hex A, compared with antibodies reacting with both Hex A and Hex B. Epithelial cells of the renal proximal tubules were positive to the same degree with antibodies recognizing both Hex A and Hex B as well as those recognizing only Hex A. [ABSTRACT FROM AUTHOR]

In order to study the relation between intra- and extrahepatocellular alpha 1-antitrypsin (alpha 1-AT) concentrations in patients with various Pi phenotypes, a prospective series of needle liver biopsies was stained with both periodic acid-Schiff (PAS) and a specific immunoperoxidase technique to demonstrate intracellular alpha 1-AT. Concomitant blood samples from all patients were analysed for alpha 1-AT. Pi phenotypes were determined by isoelectric focusing. Non-globular intrahepatocellular alpha 1-AT can be seen in biopsies from Pi M patients with increased plasma alpha 1-AT concentrations and active liver disease. No evidence was found in this study of 250 patients (including 22 controls) for predisposition toward liver disease in any phenotypic group. PAS or immunoperoxidase staining (or both) for alpha 1-AT demonstrated characteristic globular inclusions in 11 of 15 cases having the Z allele, one case being diffusely positive and three negative. Biopsies from 3 of 207 patients with liver disease and lacking the Z allele had globular inclusions seen with both PAS and immunoperoxidase techniques. alpha 1-AT globules in absence of the Z allele are most often found in elderly patients with severe disease and high plasma alpha 1-AT concentrations. [ABSTRACT FROM PUBLISHER]