This is a hereditary condition which almost always bilateral. This condition does not manifest itself before the age of 40 years. It is an autosomal dominant trait and is often associated with cysts of the liver, spleen and the pancreas.
This condition seems to occur due to the defect in the mechanism of joining between the uriniferous tubules and the collecting tubules. This is the junction failure theory of Hildebrandt.

What really happens to the kidneys in this condition??
The kidney is enlarged to 3-4 times its normal size. It is studded all over with cysts which are thin walled and may contain yellowish or red color material in them. The material is not urine but may sometimes contain uric acid and other organic constituents of urine. On section the cysts do not open into the renal pelvis [unless damaged] but they may open into each other.

How and when does this condition manifest itself??
I. In the fetus: a huge abdominal lump may be felt and its size may hinder normal delivery making it almost impossible.
II. In children: sometimes the child may be stillborn or die of uremia. This generally presents in the first two years of life as bilateral renal swellings which need to be differentiated from other conditions like Wilm’s tumour and congenital hydronephrosis.
III. In adults: patients remain well until the 4th or 5th decade of life. They then develop the following symptoms…
• Presence of a swelling on one or both sides. If only one kidney is affected then the other one may be the enlarged one due to compensatory hypertrophic mechanism to carry on the burden of the diseased kidney.
• Pain – dull aching felt in the loin. Rarely this may present with colicky pain due to stone formation or clot retention.
• Haematuria [ blood in the urine]
• Hypertension [high blood pressure]
• Infection – chills, fever, and pain. Bladder irritability is first complained of. Recurrence of pyelonephritis is also common in this condition.
• Uremia – his is seen when renal insufficiency sets in. Headache, anorexia, nausea, vomiting, drowsiness and weakness may be noted.

What special investigations would you want to get done to diagnose this condition?
> Blood – anemia is usually present; also urea levels maybe increased in cases of uremia.
> Urine – increased output is seen. Slight traces of albumin maybe noticed. Haematuria and proteinuria are also not uncommon.
> X-Ray - straight x-ray; excretory urography; retrograde urography; isotope scanning are useful in diagnosing the condition.

What are the treatment options for this condition?
> Conservative treatment:patient is advised to take low protein diet and large quantities of fluids [about 3L per day]; strenuous activities must be avoided; iron to prevent anemia; and antibiotics to prevent infections.
> Surgery is advocated when a large cyst is found compressing the upper ureter in which case it must be resected or aspirated.
> Complications: If there is severe bleeding and threat to the patient’s life then, nephrectomy or embolectomy of the renal or segmental artery is considered.
> When renal insufficiency ensues then chronic dialysis or renal transplantation may be required.
> Prognosis: in children it is very poor; but in adults it is more favourable and patient’s life expectancy is 5-10 years from the time of diagnosis.