Renal tubular dysgenesis without pulmonary hypoplasia.
Only a few cases of renal tubular dysgenesis (RTD) have been diagnosed. RTD is associated with a very early death, always due to lethal pulmonary hypoplasia. We report an additional patient, interesting for two reasons: (1) the rarity of RTD, (2) the absence of microscopic and macroscopic anatomical alterations of the lungs. The infant had only a mild, transient pulmonary maladaptation; after a few days of life the pulmonary function returned to normal. Although renal function dramatically improved after institution of peritoneal dialysis at 6 days of life, the patient died after 2 weeks with an overwhelming Candida sepsis. We suggest that the lack of pulmonary hypoplasia might be due to a short exposure to oligohydramnios.
Scarcella
A
A
Department of Paediatrics, University Federico II, Naples, Italy.
Pecoraro
C
C
D'Agnello
M R
MR
Sole
A N
AN
D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007687:Kidney Tubules, Proximal / Q000002:abnormalities*; D008168:Lung / Q000002:abnormalities*; D016104:Oligohydramnios / Q000473:pathology; D051437:Renal Insufficiency / Q000473:pathology