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Genetic susceptibility of autosomal dominant polycystic kidney disease

Genetic susceptibility of autosomal dominant polycystic kidney disease

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2100047725
Enrollment
Unknown
Registered
2021-06-23
Start date
2021-06-21
Completion date
Unknown
Last updated
2022-02-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

polycystic kidney

Interventions

case vs control groups:No

Sponsors

Department of Pediatrics, Chinese People's Liberation Army General Hospital
Lead Sponsor

Eligibility

Sex/Gender
Male

Inclusion criteria

Inclusion criteria: 1. Meet the main diagnostic criteria for polycystic kidney disease: (1) Multiple fluid cysts in the kidneys; (2) Clear family history. 2. Meet the secondary criteria for polycystic kidney disease: (1) Polycystic liver; (2) Renal insufficiency; (3) abdominal wall hernia; (4) Abnormal heart valve; (5) pancreatic cyst; (6) Brain aneurysm; (7) Seminal vesicle cyst.

Exclusion criteria

Exclusion criteria: 1. Medullary cystic nephropathy, the main pathogenic genes are MUC1 and umod; 2. The main pathogenic genes of tuberous sclerosis were TSC1 and TSC2; 3. Von Hippel Lindau disease was mainly caused by VHL; 4. The main pathogenic gene is nphp1 / 2 / 3 / 4; 5. It is caused by other diseases: the end-stage of kidney disease, such as patients receiving long-term hemodialysis treatment, may also have multiple renal cysts.

Design outcomes

Primary

MeasureTime frame
Genetic Testing;

Countries

China

Contacts

Public ContactHua Shaodong

Department of Pediatrics, Chinese People's Liberation Army General Hospital

hsdcyq@163.com+86 13581850756

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026