Genetic Counselling in Adult Polycystic Kidney Disease

We read the article by Lifshitz et al. [1] with interest. However, we feel their attitude to genetic counselling in adult polycystic kidney disease has been affected by an erroneous view of the natural history of the condition. In particular, it is incorrect to state that the disease invariably leads to end-stage renal failure (their first sentence). Several studies have shown that large numbers of affected patients may live to 70 years or more without renal impairment [2–4] and we can confirm this from our own genetic register of the condition. They also suggest that better genetic counselling will lead to a change in attitude of affected individuals towards termination of pregnancy. This implies that the authors have predetermined that termination is the correct solution to the supposed problem of polycystic disease. We feel this verges on the imposition of professional paternalism on a patient’s own choice. On the contrary, in view of the improved prognosis noted above and the fact that dialysis and transplantation are satisfactory treatments (if not cures), we see no justification for routine screening, either antenatally or in childhood, unless symptoms are present [5]. We do agree, however, that all adults at risk should be offered screening after due counselling as the detection of hypertension and its treatment could be of direct benefit to the individual. Lifshitz A, Weinstein T, Zevin D, Gafter V, Ori Y, Levi J: Genetic counselling in adult polycystic kidney disease in Israel. Nephron 1990;55:386–388. Hatfield PM, Pfister RC: Adult polycystic disease of the kidneys (Potter type 3). JAMA 1972;222:1527–1531. Churchill DN, Bear JC, Morgan J, Payne RN, McManaman PJ, Gault MH: Prognosis of adult onset polycystic kidney disease re-evaluated Kidney Int 1984;26:190–193. Thebaud HE, Simon P: Survival without end-stage renal disease (ESRD) in patients with adult polycystic kidney disease (APKD). Kidney Int 1990; 37:292. Harper PS, Clarke A: Should we test children for ‘adult’ genetic disease? Lancet 1990;335:1205–1206.