(Q61.1) Polycystic kidney, autosomal recessive

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508 390 in individuals diagnosis polycystic kidney, autosomal recessive confirmed
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16 824 deaths with diagnosis polycystic kidney, autosomal recessive
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3% mortality rate associated with the disease polycystic kidney, autosomal recessive

Diagnosis polycystic kidney, autosomal recessive is diagnosed Men are 2.13% more likely than Women

259 602

Men receive the diagnosis polycystic kidney, autosomal recessive

8 565 (3.3 %)

Died from this diagnosis.

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248 788

Women receive the diagnosis polycystic kidney, autosomal recessive

8 259 (3.3 %)

Died from this diagnosis.

Risk Group for the Disease polycystic kidney, autosomal recessive - Men and Women aged 0

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In Men diagnosis is most often set at age 0-95+
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in in men, the disease manifests at any agein in women, the disease manifests at any age
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In Women diagnosis is most often set at age 0-95+

Disease Features polycystic kidney, autosomal recessive

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Absence or low individual and public risk
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Polycystic kidney, autosomal recessive - what does this mean

Polycystic kidney disease is an autosomal recessive genetic disorder caused by mutations in the pkd1 or pkd2 genes. it is characterized by the growth of numerous cysts in the kidneys, which can lead to kidney failure, hypertension, and other complications.

What happens during the disease - polycystic kidney, autosomal recessive

Polycystic kidney disease (pkd) is an autosomal recessive disorder caused by mutations in either of the two genes pkd1 or pkd2. these mutations lead to an alteration in the structure of the renal tubules, resulting in the formation of numerous cysts in the kidneys. these cysts can grow and cause a decrease in kidney function, resulting in hypertension, renal failure, and other complications.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Complete physical examination
  • Urine analysis
  • Imaging tests such as X-ray, CT scan, ultrasound or MRI
  • Blood tests to measure kidney function and electrolyte levels
  • Genetic testing to identify the gene mutation causing the condition
  • Kidney biopsy to confirm the diagnosis

Treatment and Medical Assistance

Main goal of the treatment: To reduce the symptoms of Polycystic Kidney Disease (PKD) and to improve the patient's quality of life.
  • Regular monitoring of kidney function
  • Medications to reduce pain, high blood pressure, and other symptoms
  • Dietary changes to reduce salt and protein intake
  • Regular exercise to help maintain kidney health
  • Surgery to remove cysts or to repair damaged kidneys
  • Kidney transplantation
  • Dialysis for end-stage kidney failure
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12 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Polycystic kidney, autosomal recessive - Prevention

The best way to prevent polycystic kidney disease, an autosomal recessive genetic disorder, is to ensure that both parents are not carriers of the defective gene. genetic testing prior to conception is recommended for couples with a family history of the disease. additionally, regular medical check-ups and screenings can help detect the disease early, allowing for better management and treatment.