P09.10: Early diagnosis of autosomal recessive polycystic kidney disease (ARPKD)—a case report

ARPKD is the most common but a rare disorder due to mutation in the chromosome number 6. The prevalence is 5–10 : 100,000 births with carrier frequency 1 : 50–70. Genetic testing using linkage analysis is possible. A 34 year old, P1 + 1, Mediterranean couple had a consanguineous marriage. Her first pregnancy had been uncomplicated. At 13 weeks, both kidneys looked bright and at 20 weeks were found to be enlarged and bright. The couple declined any invasive test and wished to continue with the pregnancy irrespective of the outcome. At 27 weeks there was severe oligohydramnious, enlarged kidneys filling up the abdomen, and the possible diagnosis of autosomal recessive polycystic kidney was explained to the couple along with the unfavourable prognosis. At 36 weeks, the couple agreed for termination of pregnancy due to the anticipated bad outcome. She delivered a male fetus of 3.54 kg after feticide. The couple declined post mortem examination. This baby had category one disease where about 90% of collecting ducts are dilated causing severe oligohydramnios and pulmonary hypoplasia. 75% result in the death within the first week of life. Antenatal diagnosis is by ultrasound in the second half of pregnancy (20–30 weeks) as early ultrasound is not very reliable at detecting the condition. Prenatal counselling after the finding of hyperechogenic kidneys is difficult however associated oligohydramnios is associated with a poor outcome.