Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules.
The autopsy findings of a newborn with renal tubular dysgenesis, born to first cousins of Moslim Arab 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.
Ariel
I
I
Department of Pathology, Hadassah Medical Center, Jerusalem, Israel.
Wells
T R
TR
Landing
B H
BH
Sagi
M
M
Bar-Oz
B
B
Ron
N
N
Rosenmann
E
E
D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D007684:Kidney Tubules / Q000002:abnormalities* / Q000473:pathology; D007687:Kidney Tubules, Proximal / Q000002:abnormalities / Q000473:pathology; D008297:Male; D009929:Organ Size; D010375:Pedigree; D012886:Skull / Q000002:abnormalities