Patient discussions
Information should be provided to patients about the variable course and disease manifestations of autosomal-dominant PKD, and the importance of early detection and modification of risk factors, both for the patient and for them to discuss with potentially affected relatives.
Early detection and treatment will help avoid unnecessary tests and minimize patient anxiety. The following complications specifically should be mentioned: hypertension, hematuria, flank pain, nephrolithiasis, mitral valve prolapse, intracranial aneurysms, and renal failure. Patients should be taught the significance of systolic and diastolic blood pressure (BP) readings, how to take their BP themselves, and the targets of BP-lowering therapies. Diet guidelines for 0.8 g/kg protein of ideal body weight per day should be provided. Patients should avoid or limit foods or medications containing caffeine, which increases cyclic adenosine monophosphate (cAMP). Patients with hypertension or hypercholesterolemia should be advised to restrict sodium to 90 mEq/day and to follow a low cholesterol (<200 mg/day) diet.
Patients should be advised that presymptomatic imaging for intracranial aneurysms is recommended in patients with a strong family history of intracranial aneurysmal rupture in high-risk occupations such as pilots, if major elective surgery is planned with anticipated hemodynamic instability, and in people with no unusual risk factors but who want to be screened because of anxiety.
Reproductive counseling may be considered for couples considering having a family. Options are not having children, preimplantation genetic diagnosis, amniocentesis or chorionic villus sampling in the first 10 to 6 weeks of pregnancy, and gamete donation from an unaffected donor depending on which parent is affected. Preimplantation genetic diagnosis is offered in a few specialized centers.[122]
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