Early detection of renal cysts in ADPKD
A Proposal Autosomal dominant polycystic kidney disease (ADPKD) develops in utero and the cysts progressively enlarge but usually go undetected until the 4th or 5th decades of life. Recent evidence indicates that injury to parenchyma accompanied by irreversible fibrotic changes may begin to develop in the cystic kidneys during the first decade of life yet patients are currently being denied many years of supportive ...more »
A Proposal
Autosomal dominant polycystic kidney disease (ADPKD) develops in utero and the cysts progressively enlarge but usually go undetected until the 4th or 5th decades of life. Recent evidence indicates that injury to parenchyma accompanied by irreversible fibrotic changes may begin to develop in the cystic kidneys during the first decade of life yet patients are currently being denied many years of supportive treatment until they develop clear clinical signs that draw attention to the disease. This late discovery of the disease thwarts opportunities to stop or slow the processes contributing to late stage renal insufficiency before irreversible damage has been done.
Ultrasound examination of the fetus to search for congenital abnormalities is justified and commonplace since abnormalities discovered early can oftentimes be treated effectively post-partum. Magnetic resonance renal imaging is sensitive enough to detect cysts ~2 mm in diameter and can identify cysts in fetal and newborn children at risk for ADPKD. With recent changes in law protecting those with genetic disorders from discrimination the time is right to perform a systematic study to screen children of a parent with ADPKD as early as the late fetal stage.
The first step in such a study would be to convene a panel of adult and pediatric nephrologists, radiologists, ethicists and laity to thoroughly discuss the approach and set guidelines. If there is broad agreement that the study should be done, a multi-institutional study would follow to survey fetal and newborn kidneys in a cohort of children at risk for ADPKD to: 1) develop criteria for selecting candidates for the cohort, 2) develop safe, precise imaging methods relying primarily on MR to detect renal cysts 2 mm or less in diameter, 3) determine the total number of renal cysts pre- and post-partum, 4) determine total kidney and total cyst volume, 5) perform annual determinations of cyst number and kidney volumes, 6) develop quantitative measures of disease progression to be used in controlled clinical trials to reduce cyst formation and growth in the early stages of the disease.
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