Polycystic kidney disease, autosomal dominant


The most common form of polycystic kidney disease characterized by the progressive development of innumerable cysts in the kidneys, causing hypertension, renal pain, and renal insufficiency (kidney failure). Other features of the disease can be cysts in other organs, such as the liver and ‘pancreas, intracranial aneurysms, dilatation (widening) and dissection of the aorta, and abnormalities in the heart valves. The disease is due to mutations in the PKD1 gene on chromosome 16 or, less often, in the PKD2 gene on chromosome 4. Also known as adult polycystic kidney disease.

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    An early-onset disorder that is characterized by the presence of innumerable cysts in the kidneys and enlarged kidneys that can usually be detected via ultrasound before birth or in the neonatal period. Some cases are diagnosed later in childhood. The gene for the disease is on chromosome 6. Also known as infantile polycystic kidney disease.

  • Polycystic kidney disease, infantile

    Polycystic kidney disease, autosomal recessive.

  • Polycystic ovarian syndrome

    Abbreviated PCOS. Polycystic ovarian syndrome is a condition in women characterized by irregular or no menstrual periods, acne, obesity, and excess hair growth. PCOS is a disorder of chronically abnormal ovarian function and hyperandrogenism (abnormally elevated androgen levels). It affects 5%-10% of women of reproductive age. PCOS is also called the Stein-Leventhal syndrome. Women with […]

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    Abbreviated PCOS. Polcystic ovary syndrome is a condition in women characterized by irregular or no menstrual periods, acne, obesity, and excess hair growth. PCOS is a disorder of chronically abnormal ovarian function and hyperandrogenism (abnormally elevated androgen levels). It affects 5-10% of women of reproductive age. PCOS is also called the Stein-Leventhal syndrome. Women with […]

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