Potter sequence and consanguinity--a case report.
The first child of first-cousin parents had Potter sequence, including rudimentary, dysplastic kidneys and pulmonary hypoplasia. The girl died after 5 h. During the next pregnancy, early fetal ultrasound was normal. In the 33rd week, however, ultrasound revealed oligohydramniosis and reduced renal size. After 40 weeks of gestation a healthy girl of normal weight without any stigmata was born. Her pulmonary function and X-ray were normal. Renal ultrasound demonstrated small kidneys with high echogenicity. There was a transient renal insufficiency with a peak serum creatinine of 160 mumol/l. At 5 months of age the infant still has an increased serum creatinine concentration of 57 mumol/l and an inulin clearance of 29 ml/min per 1.73 m2. In this case there is a possibility of an autosomal recessive inheritance.
Fischler
B R
BR
Department of Paediatrics, Karolinska Institute, Huddinge Hospital, Sweden.
Berg
U B
UB
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D003404:Creatinine / Q000097:blood / Q000652:urine; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008168:Lung / Q000002:abnormalities; D016104:Oligohydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D003404:Creatinine