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The examination of PKD1/PKD2 gene mutation in patients with autosomal dominant polycystic kidney disease

The examination of PKD1/PKD2 gene mutation in patients with autosomal dominant polycystic kidney disease - The examination of PKD1/PKD2 gene mutation in patients with autosomal dominant polycystic kidney disease

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
JPRN
Registry ID
JPRN-UMIN000037987
Enrollment
60
Registered
2019-09-12
Start date
2017-02-01
Completion date
Unknown
Last updated
2026-06-29

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

Conditions

Autosomal dominant polycystic kidney disease

Interventions

None listed

Sponsors

Kurume University
Lead Sponsor
Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan.
Collaborator

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: The patients who had diagnosed with ADPKD from clinical examination.

Exclusion criteria

Exclusion criteria: The patients who are judged to be inadequate by study doctors. The patients who are not obtained the agreement.

Design outcomes

Primary

MeasureTime frame
PKD1/PKD2 gene in all exon and exon-intron adjacent regions by sanger method and the next generation sequencer.

Secondary

MeasureTime frame
(1) Total kidney volume (2) Other organs complications (multiple liver cysts, cerebral aneurysm, cardiac valve disease) (3) Factors of arteriosclerosis (plasma AVP, AGE, ADMA, plasma osmolality, intact-PTH etc) (4) Factor of the renal function (5) Factor of the liver function (6) Factor of diabetes

Countries

Japan

Contacts

Public ContactKei Fukami

Kurume University School of Medicine Division of Nephrology, Department of Medicine

fukami@med.kurume-u.ac.jp0942-31-7002

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026