Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Otsuka Pharmaceutical Co., Ltd. | INDUSTRY |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease. We plan DNA analysis using the next generation sequencer (NGS) and examine the relationship between mutational types and clinical phenotypes. The accuracy of DNA analysis with NGS is tested by Sanger's method. The kidney and life survival curves will be compared between PKD1, PKD2 and non-ADPKD family members.
80 unrelated patients with ADPKD attending to the Kyorin University Hospital whose clinical data are compiled. DNA analysis is performed at Otsuka Pharmaceutical Laboratory.
Clinical data include total kidney volume (TKV), TKV slope, eGFR, eGFR slope and other clinically relevant data.
Not provided
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| The relationship between mutational types and phenotypes |
| Depends on the observational period at least more than one year. |
| Measure | Description | Time Frame |
|---|---|---|
| Identify the efficacy of next generation sequencing method |
| One year. |
| Measure | Description | Time Frame |
|---|---|---|
| The relationship between mutational types and phenotypes; | • The radiologic findings of intracranial aneurysm and cerebral arteries. | One year. |
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
The patients with ADPKD visiting Kyorin university hospital over two years. The patients whose clinical data including total kidney volume (TKV), eGFR, QOL data and other relevant clinical data are available will be enrolled.
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Eiji Higashihara, MD | Department of Polycystic Kidney Research, Kyorin University School of Medicine | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Polycystic Kidney Research, Kyorin University School of Medicine | Mitaka | Tokyo | 181-8611 | Japan | ||
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 28983800 | Derived | Higashihara E, Horie S, Kinoshita M, Harris PC, Okegawa T, Tanbo M, Hara H, Yamaguchi T, Shigemori K, Kawano H, Miyazaki I, Kaname S, Nutahara K. A potentially crucial role of the PKD1 C-terminal tail in renal prognosis. Clin Exp Nephrol. 2018 Apr;22(2):395-404. doi: 10.1007/s10157-017-1477-7. Epub 2017 Oct 5. |
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D016891 | Polycystic Kidney, Autosomal Dominant |
| ID | Term |
|---|---|
| D007690 | Polycystic Kidney Diseases |
| D052177 | Kidney Diseases, Cystic |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
Blood
| Department of Urology, Kyorin University Hospital |
| Mitaka |
| Tokyo |
| 181-8611 |
| Japan |
| D052776 |
| Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000072661 | Ciliopathies |
| D030342 | Genetic Diseases, Inborn |