Autosomal recessive polycystic kidney disease
Conditions
Interventions
case group:Exon sequencing and transcriptome sequencing
Sponsors
Department of Pediatrics, PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Diagnosis of ARPKD with one or more of the following conditions: (1) Neither parent has renal cysts (if the parent is younger than 30 years old, the grandparent should not have renal cysts); (2) A sibling with the disease; (3) If the parents are close relatives; (4) There is clinical, laboratory or pathological evidence of liver fibrosis.
Exclusion criteria
Exclusion criteria: 1. Both parents have renal cysts; 2. Parents are less than 30 years old, but grandparents have renal cysts, except autosomal dominant polycystic kidney; 3. Simple renal cysts.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Exons;Transcriptome; | — |
Countries
China
Contacts
Public ContactHua Shaodong
Department of Pediatrics, PLA General Hospital
Outcome results
None listed