TSC2/PKD1 contiguous gene syndrome
Conditions
Interventions
Tovaptan treatment group:tolvaptan
Sponsors
Senior department of Pediatrics, Chinese PLA General Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Diagnosis of TSC2/PKD1 contiguous gene syndrome; 2. Age = 18 years old; 3. Magnetic resonance imaging or ultrasound indicates renal enlargement and detection of multiple renal cysts; 4. Parents or legal guardians understand and sign a written informed consent form.
Exclusion criteria
Exclusion criteria: 1.Anuria or current need for kidney replacement therapy defned as intermittent or continuous hemodialysis, peritoneal dialysis, hemofltration, hemodiafltration or history of kidney transplantation; 2.Premature birth (=32 weeks gestational age) for infants 28 days to1.2×ULN; 4.Has splenomegaly or portal hypertension; 5.Besides TSC2/PKD1 contiguous gene syndrome, there are other diseases related to renal cysts; 6.Cannot be monitored for fuid balance; 7.Has or at risk of having electrolyte imbalance; 8.Has or at risk of having signifcant hypovolemia (e,g., subjects that lack free access to water, without adequate fuid monitoring and manage- ment) as determined by investigator; 9.Clinically signifcant anemia, as determined by investigator; 10.Platelets<50 × 10^9/L; 11.Taking medications known to induce CYP3A4; 12.Urinary obstruction ; 13.eGFR<30 mL/min/1.73 m2.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Total kidney volume; Estimated glomerular filtration rate(eGFR); | — |
Secondary
| Measure | Time frame |
|---|---|
| urine specific gravity;urine osmolality; | — |
Countries
China
Contacts
Public ContactLiping Zou
Senior department of Pediatrics, Chinese PLA General Hospital
Outcome results
None listed