Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease (PKD1) Presenting in Utero and Prognosis for Very Early Onset Disease

Overview

Journal J Med Genet

Specialty Genetics

Date 1998 Feb 25

PMID 9475088

Citations 22

Authors

K D Macdermot

A K Saggar-Malik

D L Economides

S Jeffery

Affiliations

Soon will be listed here.

Abstract

We describe four prenatal diagnoses in a family with autosomal dominant polycystic kidney disease. Two pregnancies were terminated following the detection of enlarged echogenic fetal kidneys with cysts. Histopathological examination confirmed the diagnosis of polycystic kidney disease. Linkage to PKD1 was obtained by the analysis of DNA from relatives in three generations and from paraffin blocks and formalin fixed fetal tissues. Prenatal DNA analysis in subsequent pregnancies identified one unaffected fetus and one fetus carrying the high risk PKD1 allelle. Information on survival and subsequent outcome of PKD cases presenting in utero was requested by this family before prenatal testing was performed. Of 83 reported cases of ADPKD presenting in utero (excluding termination of pregnancy) or in the first few months of life, 43% died before 1 year. Longitudinal follow up of 24 children in two studies showed that 67% of survivors developed hypertension, of whom three had end stage renal failure at a mean age of 3 years.

Citing Articles

Overview of clinical status, treatment, and long-term outcomes of pediatric autosomal-dominant polycystic kidney disease: a nationwide survey in Taiwan.

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Autosomal dominant and autosomal recessive polycystic kidney disease: hypertension and secondary cardiovascular effect in children.

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Generation of heterozygous PKD1 mutant pigs exhibiting early-onset renal cyst formation.

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