Renal tubular dysgenesis in siblings. 2003

Chia-Wen Huang, and An-Hang Yang, and Chiuang-Ru Lai, and Shyh-Chern Chang, and Hung Chiang
Department of Pathology, Taipei Municipal Yang-Ming Hospital, Taipei Taiwan, ROC.

Renal tubular dysgenesis is a recently recognized autosomal recessive condition characterized by absence or poor development of proximal convoluted tubules, clinical presentation of oligohydromnios, Potter sequence, and neonatal respiratory failure. Only a few cases of renal tubular dysgenesis have been diagnosed. We report 2 cases from a single family. Histologically, the renal cortices showed crowding of the glomeruli and primitive tubules, most of which demonstrated positive cytoplasmic staining for epithelial membrane antigen and peanut lectin. Electron microscopy of the kidneys of the second baby revealed absence of differentiated characteristics of the proximal tubules.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007684 Kidney Tubules Long convoluted tubules in the nephrons. They collect filtrate from blood passing through the KIDNEY GLOMERULUS and process this filtrate into URINE. Each renal tubule consists of a BOWMAN CAPSULE; PROXIMAL KIDNEY TUBULE; LOOP OF HENLE; DISTAL KIDNEY TUBULE; and KIDNEY COLLECTING DUCT leading to the central cavity of the kidney (KIDNEY PELVIS) that connects to the URETER. Kidney Tubule,Tubule, Kidney,Tubules, Kidney
D008297 Male Males
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014564 Urogenital Abnormalities Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female. Genitourinary Abnormalities,Abnormalities, Urogenital,Abnormalities, Genitourinary,Abnormality, Genitourinary,Abnormality, Urogenital,Genitourinary Abnormality,Urogenital Abnormality

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