Familial Renal Tubular Dysgenesis: A Disorder Not Isolated to Proximal Convoluted Tubules

I. Ariel Department of Pathology, Hadassah Medical Center and Hebrew University-Hadassah Medical School, Jerusalem, Israel

T. R. Wells Department of Pathology and Laboratory Medicine, Pathology Research, Children's Hospital of Los Angeles, Los Angeles, California, USA

B. H. Landing Department of Pathology and Laboratory Medicine, Pathology Research, Children's Hospital of Los Angeles, Los Angeles, California, USA

M. Sagi Department of Human Genetics, Hadassah Medical Center and Hebrew University-Hadassah Medical School, Jerusalem, Israel

B. Bar-Oz Department of Neonatology, Hadassah Medical Center and Hebrew University-Hadassah Medical School, Jerusalem, Israel

N. Ron Department of Pathology, Hadassah Medical Center and Hebrew University-Hadassah Medical School, Jerusalem, Israel

E. Rosenmann Department of Pathology, Hadassah Medical Center and Hebrew University-Hadassah Medical School, Jerusalem, Israel

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Abstract

The autopsy findings of a newborn with renal tubular dysgenesis, born to first cousins of Moslim Arob descent, are described. Hypocalvaria and hyperflexible joints were noted in addition to the renal lesion. A microdissection study demonstrated marked shortening of all the nephron segments from the glomeruli to the collecting tubules, rather than an isolated abnormality of the proximal convoluted tubules.

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Familial Renal Tubular Dysgenesis: A Disorder Not Isolated to Proximal Convoluted Tubules

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Familial Renal Tubular Dysgenesis: A Disorder Not Isolated to Proximal Convoluted Tubules

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