[Dominant polycystic kidney disease in children. Clinical aspects related to age and problems of early diagnosis].
Two cases of Dominant Polycystic Kidney Disease (DPKD) are reported in newborns of two different affected families. One of two infants was prenatally diagnosed by ultrasound, few cases of in utero diagnosis being previously reported. The two infants had different course: one had no symptoms (14 months now), on the contrary the other one had abdominal mass at birth and oliguria in the first 48 hours, then acute pyelonephritis at 15 months. The increasing incidence of DPKD diagnosed in infants and children by US screening in risk subjects is stressed and importance of precocious diagnosis for genetic counselling emphasized.
Patriarca
P L
PL
Divisione di Pediatria, Ospedale Civile di Sondrio, Italia.
Branchi
M
M
Provera
F
F
Siani
A
A
D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011296:Prenatal Diagnosis; D014463:Ultrasonography
La malattia policistica renale dominante nel bambino. Gli aspetti clinici peculiari dell'età ed i problemi della diagnosi precoce.