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.
Study Type
OBSERVATIONAL
Enrollment
80
Department of Polycystic Kidney Research, Kyorin University School of Medicine
Mitaka, Tokyo, Japan
Department of Urology, Kyorin University Hospital
Mitaka, Tokyo, Japan
The relationship between mutational types and phenotypes
* Total Kidney Volume (TKV) measured by MRI and its slope. * Total Liver Volume (TLV) measured by MRI and its slope. * GFR estimated by plasma creatinine and cystatin C (eGFR). * Other clinical data, such as QOL scores and ADPKD-related symptoms.
Time frame: Depends on the observational period at least more than one year.
Identify the efficacy of next generation sequencing method
* Compatibility of sequence results between two NGSs. * Compatibility of sequence results between NGS and Sanger's method.
Time frame: One year.
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