[Early manifestation of polycystic kidney changes in tuberous sclerosis].
Tuberous sclerosis (McKusick number: 19110) is well documented as an inheritable autosomal dominant disorder. On the occasion of results of an autopsy of a male fetus (1950 g, 29th gestational week) we report on the very early onset of a giant cell astrocytoma (microcalzified focally) and a cystic kidney disorder which in association with this phacomatosis is described first for this age. Thus, based on sonography there is a new differential diagnosis for the weighty prenatal diagnosis of a "Potter syndrome" or of "cystic kidneys". Moreover, on a chromosomal level we discuss possible connections between tuberous sclerosis and distinct forms of autosomal dominant polycystic kidney disease, ADPKD.
Wagner
M
M
Pathologie am Stadtkrankenhaus Hanau.
Fitz
H
H
Schindler
C
C
D000328:Adult; D001921:Brain / Q000473:pathology; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics / Q000473:pathology*; D011247:Pregnancy; D013577:Syndrome; D014402:Tuberous Sclerosis / Q000235:genetics / Q000473:pathology*
Ein frühes Auftreten polyzystischer Nierenveränderungen bei tuberöser Sklerose.