Renal tubular dysgenesis without pulmonary hypoplasia

Pediatr Nephrol. 1994 Apr;8(2):216-7. doi: 10.1007/BF00865484.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Kidney Tubules, Proximal / abnormalities*
  • Lung / abnormalities*
  • Oligohydramnios / pathology
  • Renal Insufficiency / pathology