Autosomal recessive polycystic kidney disease

Pediatr Nephrol. 1989 Jan;3(1):43-9. doi: 10.1007/BF00859625.

Abstract

The clinical features of 55 cases of autosomal recessive polycystic kidney disease (ARPCKD) have been reviewed. Each had evidence of ARPCKD. The outcomes of 87% were known; 24 had died. Twenty-four of 31 were seen between 1980 and 1986; 7 could not be traced. Forty-five percent presented under 1 month; 38% between 1 month and 1 year; and 9 cases over 1 year. Hyponatraemia occurred in 15 out of 19 aged less than 3 months; hypertension occurred in 65%; splenomegaly in 47% of those surviving more than 3 months. Portocaval shunts were done in 5 aged 2-12 years. Thirteen died of renal failure, 6 under 1 year, and 7 between 1 year and 13 years. Life-table survival rates calculated from birth revealed that 86% were alive at 3 months, 79% at 1 year, 51% at 10 years, and 46% at 15 years. Calculations based on patients who survived to 1 year of age showed that 82% were alive at 10 years and 79% at 15 years. These results reveal an improved prognosis for a condition once assumed to be fatal.

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Genes, Recessive*
  • Humans
  • Hypertension, Renal / etiology
  • Hyponatremia / etiology
  • Infant
  • Infant, Newborn
  • Kidney / pathology
  • Liver / pathology
  • Male
  • Polycystic Kidney Diseases / complications
  • Polycystic Kidney Diseases / genetics*
  • Polycystic Kidney Diseases / pathology
  • Pregnancy
  • Renin / blood

Substances

  • Renin