[Cystic and hyperechogenic kidneys in children].
Thanks to prenatal ultrasound scan, cystic kidneys, as well as obstructive uropathies, are the most frequent renal anomalies identified during pregnancy. They should be recognized because of genetic and clinical implications. The most frequent are autosomal dominant and recessive polycystic kidney diseases, followed by renal developmental anomalies linked to TCF2 gene. Renal cysts are also observed in other hereditary diseases or multiple malformation syndromes (tuberosis sclerosis, Meckel-Grubber syndrome, Oro-facial digital type 1 syndrome...). The diagnosis is based on a sonographic and morphological analysis of renal abnormalities, on the search for family histories and extra-renal manifestations. A better classification of these patients allows tailor-made follow-up and care improvement.
Brochard
Karine
K
Service de néphrologie-médecine interne-hypertension pédiatrique, hôpital des enfants, 330, avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse cedex 9, France.
Decramer
Stéphane
S
D015415:Biomarkers / Q000378:metabolism; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging; D011247:Pregnancy; D011859:Radiography; D011956:Receptors, Cell Surface / Q000235:genetics; D016216:Ultrasonography, Prenatal
D015415:Biomarkers; C496495:HNF1B protein, human; C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface; D051539:Hepatocyte Nuclear Factor 1-beta