Infantile polycystic kidney disease is a rare finding. We came across such a rare case.
Introduction
Infantile polycystic kidney disease is found in
about 1 per 30000 births. This is an autosomal recessive condition. The responsible gene in the short arm of chromosome six.1
Case Report
Mrs. ABC, 24-year old lady, primigravida with seven months amenorrhoea came for antenatal registration on 20/11/2001. Her LMP was on 16/4/2001, thus according to dates, she was 26 weeks period of gestation. She had no history of any high risk factor or positive family history. On obstetric examination, fundal height corresponded to 24 weeks and had clinically less liquor- oligohydramnios. Obstetric ultrasound biometric measurements were corresponding to 23.4 weeks. There was severe oligohydramnios with AFI only 3.0 cm. Both foetal kidneys were enlarged and homogeneously hyperechogenic suggestive of ‘Infantile Polycystic kidney disease’. Foetal urinary bladder contained minimal urine. The lungs appeared slightly hypoplastic. There were no obvious abnormalities detected.
Parents were counseled about poor prognosis. They did not agree for foetal karyotype and opted for termination of pregnancy. Cerviprime instillation followed by oxytocin drip was started and patient delivered a stillborn foetus weighing 850 gms with typical Potter’s face. Parents did not agree for post-mortem examination. They were counseled regarding the recurrence risk and were advised to report early in next pregnancy.
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| Fig. 1 : Ultrasound picture of infantile polycystic kidney of foetus. |
Discussion
In this condition, the markedly enlarged kidneys are filled with numerous cortical cysts and dilated collecting ducts. The disease has a wide spectrum of renal and hepatic involvement and is subdivided into perinatal, neonatal, infantile and juvenile types on the basis of the age of onset of the clinical presentation and the degree of renal tubular involvement.1,2
Prenatal diagnosis is confined to the types with earlier onset (perinatal and probably neonatal type) and is based on the demonstration of bilaterally enlarged and homogeneously hyper-echogenic kidneys. There is often associated oligohydramnios. The sonographic appearance, however, may not become apparent before 24 weeks gestation and, therefore, serial scans should be performed for exclusion of diagnosis. Prenatal diagnosis in family at risk can be carried out by first trimester chorion villus biopsy.
The perinatal type is lethal either in utero or in the neonatal period due to pulmonary hypoplasia. The neonatal type results in death due to renal failure within the first year of life. The infantile and juvenile types result in chronic renal failure, hepatic fibrosis and portal hypertension; many cases survive into their teens and require renal transplantation.
References
- Pilu Gianluigi, Nicolaides KH. Diagnosis of foetal abnormalities. London, The Patherson publishing group. 1999 pg. 77-78.
- Bhattacharjee AK. Infantile Polycystic Kidney. J Obst Gyn India 2000; 50 : 89.
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