Is It Ethical to Test Apparently “Healthy” Children for Autosomal Dominant Polycystic Kidney Disease and Risk Medicalizing Thousands?

Frontiers in Pediatrics

Tess Harris¹ 

关键词: autosomal dominant polycystic kidney disease;    genetic test;    presymptomatic testing;    genetic counseling;    medicalization;    next-generation sequencing;   

DOI  :  10.3389/fped.2017.00291

学科分类：儿科学

来源: Frontiers

【 摘 要 】

Autosomal dominant polycystic kidney disease is the most common inherited renal disease worldwide, affecting 1–2 in 1,000 people (2), an estimated 12.5 million individuals across all ethnic groups. Mutations in three genes (PKD1, PKD2, and GANAB) cause multiple fluid-filled cysts to develop in both kidneys and other organs. The kidney cysts grow and expand throughout life causing complications, such as chronic and acute pain, infections, hematuria, stones, hernia, and disfiguring abdominal swelling. Over time, the cysts overwhelm and destroy healthy tissue resulting in kidney failure. ADPKD also causes cysts to form in the liver (polycystic liver disease or PLD), with some patients experiencing massive liver growth, infection, and pain. Brain aneurysms are four times as common in ADPKD as the general population and patients are at risk of cardiovascular disease from high blood pressure. Other, rarer manifestations can occur, such as cysts in the pancreas, brain, and seminal vesicles (Figure ​(Figure11).

【 授权许可】

CC BY