Gitelman syndrome is a hereditary tubular disease that is caused by a genetic abnormality and does not cause serious life-threatening symptoms, but causes fatigue, muscle weakness, nocturnal urine, and salt preference.Symptoms of imbalance of electrolytes such as potassium in the blood significantly reduce the quality of life, but there are no specific symptoms and it is appropriate because diagnosis cannot be made without suspicion of this disease and blood test. There may be many untreated patients, he said.

　The frequency of carriers is said to be about 1%, and the prevalence rate is said to be about 4 in 1, but the exact number is unknown.Therefore, in this study, we investigated the frequency of pathogenic gene mutations in each race using multiple human gene databases, and estimated the frequency and prevalence of Gitelman syndrome carriers.

　As a result, the estimated carrier frequency was about 9% for Japanese and 0.7-5.8% for other ethnic groups.The estimated prevalence per 1000 people was about 2 for Japanese and 0.012-0.8 for other ethnic groups.Even when excluding mutations of undetermined pathogenicity, the estimated carrier frequency in Japanese was about 8% and the prevalence was about 1000 in 1.7, much higher than in other ethnic groups.

　For this reason, the true prevalence of Gitelman syndrome is higher than previously reported figures, and potential patients who have been suffering from symptoms that interfere with their daily lives for many years but are overlooked are more familiar diseases. It was suggested that there may be many.It is hoped that the results of this study will lead to improvement in the QOL of patients by promoting appropriate tests and treatments in the future.

Paper information:[Scientific Reports] Examination of the Predicted Prevalence of Gitelman Syndrome by Ethnicity Based on Genome Databases