Polycystic kidney disease begins early in life

MEN'S HEALTH MATTERS: Some 50 per cent of children will inherit the disorder, which can affect other organs, writes  Thomas …

MEN'S HEALTH MATTERS:Some 50 per cent of children will inherit the disorder, which can affect other organs, writes  Thomas Lynch

Q I recently had an abdominal ultrasound scan because of a urinary tract infection and they found multiple cysts in both of my kidneys. My GP told me that I have polycystic kidney disease and has referred me to a nephrologist. I am 55 years old, fit and feel very healthy. What does this mean?

A Polycystic kidney disease (autosomal-dominant polycystic kidney disease, APKD) is an inheritable kidney disease which means that 50 per cent of children will inherit the disorder.

All people who inherit the disorder do not necessarily suffer from the disease or develop kidney failure.

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The kidneys develop multiple cysts which tend to form early in life and can be detected by ultrasound scan as early as 20 years of age.

As these cysts continue to increase, both in size and number, they tend to interfere with kidney function as you get older.

By the age of 50, half of all patients with polycystic kidneys will have developed kidney failure, necessitating dialysis or a renal transplant. By 70 years of age, this number will have risen to 70 per cent.

The most common presentation is with early onset high blood pressure. The second most common way it may present is as a kidney infection, giving rise to pain and tenderness in the infected kidney.

It occasionally may present as blood in the urine. About one in five patients develops kidney stones.

Polycystic kidney disease can also affect other organs. Liver cysts are quite common in females and are more commonly found as the kidney disease progresses.

There may be some mild abnormalities of the heart valves which can be detected by cardiac ultrasound (echocardiogram). A less common complication is weakening of one of the blood vessels in the brain (this is termed as cerebral aneurysm).

The incidence of this complication is higher in patients with a family history of cerebral aneurysm or subarachnoid haemorrhage.

The diagnosis of polycystic kidney disease is made by ultrasound scanning.

Genetic testing is not particularly advanced in the management of polycystic kidney disease, and treatment is geared at controlling the blood pressure and treating its complications.

Q I am 32 years old and have been married for three years. As my wife and I are having difficulty conceiving a baby, I attended my doctor recently. He has diagnosed a varicocele. What exactly is this and do I need to do anything about it?

A A varicocele is a collection of dilated veins around the spermatic cord and often feels like a lump in the scrotum. They are often visible and have often been described to feel like a bag of worms.

They usually begin to develop during puberty, are almost exclusively left-sided and affect 15-20 per cent of the normal male population.

They have been shown to be associated with decreased testicular size but not with abnormal motility or morphology of the sperm.

It is widely accepted that varicoceles are associated with male sub-fertility. The mechanisms as to why this should be so have not been satisfactorily explained but a number of hypotheses have been advanced.

The temperature of the testicles is one degree lower than body temperature due to the fact that they are in the scrotum.

This lower temperature is necessary for spermatogenesis (manufacture of sperm), but the presence of a varicocele may increase this temperature, thus impairing spermatogenesis.

It is felt that spermatogenesis might also be impaired by inadequate blood drainage or raised testicular pressure.

However, the conventional notion that varicoceles are associated with sub-fertility is open to question, as many men with normal fertility have varicoceles.

Researchers in the US have recently shown that there is no real evidence to support the practice of varicoceles repair as an effective treatment for male sub-fertility.

Many men with varicoceles have unimpaired fertility, but there is certain logic to repairing them in those men who are sub-fertile.

Many varicoceles can be obliterated using radiological techniques and do not require surgery.

• This weekly column is edited by Thomas Lynch, consultant urological surgeon, St James's Hospital, Dublin with a contribution from Dr George Mellotte, consultant nephrologist, St. James's and Tallaght Hospitals, Dublin