Click here to return to our home page  

Polycystic Kidney

NHS Logo

CAR home
    Renal tract     dilation and     hyronephephrosis
      Upper renal       tract       obstruction
      Lower renal       tract       obstruction
    Multicystic     dysplastic     kidney
    Polycystic     kidney
    Renal agenesis


Introduction Antenatal Postnatal West Midlands Data



Polycystic renal disease is a wide spectrum of renal abnormalities in which the kidney contains many cysts; these are often small and are associated with the kidneys appearing large. These anomalies cover two familial disorders, Infant Polycystic Kidney Disease IPCKD (Type I Cystic Disease of Potter/ Congenital Hepatic Fibrosis complex) and Adult Polycystic Kidney Disease APCKD (Type III Cystic Disease of Potter). The classification of problems into infantile and adult types reflects the wide spectrum of timing of renal failure.

The infant type is autosomal recessive with a recurrence risk of 25%. Renal disease is well developed by births. The adult type is autosomal dominant with a recurrence risk of 50%. This type has a variable expression and usually presents in later life but can present in-utero. One in 1,000 people carries the mutant gene (located on chromosome 16) which can be detected on DNA analysis. APCKD is more prevalent in the general population that IPCKD and is one of the most common causes of chronic renal failure. Other associated anomalies include cardiac malformations and cystic lesions in the liver, pancreas, spleen, and gonads.

Top of the page


Infantile and adult types can present in fetal life and the diagnosis rests upon the appearance of the kidneys, which are echogenic (bright) on ultrasound due to the tiny cysts, and large. Both kidneys are equally affected and all parameters of the kidney are large. In infantile type the kidney outline is smooth but can be bosselated in adult type. Echogenic kidneys can occur for a number of other reasons and in the absence of reduced liquor, or abnormal measurements great caution should be exercised to reaching this diagnosis. Maternal serum AFP may be raised due to defective kidney re-absorption.

A variable degree of oligohydramnios may occur. When severe bilateral renal disease results in oligohydramnios, the bladder should not be seen, and if a normal bladder is present, the diagnosis is in doubt. If the liquor volume is normal until 24 weeks pulmonary hypoplasia is extremely unlikely, and the general strategy will be to await the delivery of the baby and make a postnatal assessment. Liquor volume can be used as a guide to the renal function after delivery, but the kidneys in fetal life have little requirement to concentrate urine, and renal failure after birth can follow even when the liquor volume has been normal.

A team approach is required both to establish the diagnosis and to manage the situation. Genetic and paediatric input are vital, but even after expert consultation a wide spectrum of possible outcome is likely to be given.

Top of the page


IPCKD generally has a poor prognosis, depending on pulmonary status. In severe cases infants die in the neonatal period as a consequence of oligohydramnios sequence resulting in bilateral pulmonary hypoplasia. The immediate care of a neonate who has been diagnosed during pregnancy as having renal problems is to ensure adequate respiratory function. Once breathing has been established, the kidneys can be assessed by ultrasound scan. The images will be easier to obtain than during pregnancy, and the prenatal findings will be rapidly superseded by postnatal information, including the urine output and appearance of the kidneys and bladder on ultrasound. Renal function tests over a period of time will establish how well the kidneys function in concentrating urine, with rising values of urea, creatinine and potassium indicating renal failure. Renal biopsy may be required to establish the diagnosis.

APCKD has a variable expression, with many patients asymptomatic until their 40s. The long-term prognosis is dependent upon the extent of irreversible renal damage. In both types of polycystic kidney disease, renal failure is managed by dialysis and transplantation.

Top of the page


Information to follow

Top of the page

© Perinatal Institute 2011