A case of adult Dent disease in Japan with advanced chronic kidney disease

CEN Case Reports
Ken SaidaKenichi Koike

Abstract

Dent disease is an inherited tubulopathy caused by a mutation in the CLCN5 chloride channel gene. In cases of Dent disease in Japan (Japanese Dent, J-Dent), renal function is generally preserved and rarely progresses to advanced kidney dysfunction. However, the long-term prognosis of J-Dent remains unknown. We report the case of a 32-year-old man with J-Dent who developed advanced kidney dysfunction. Since the age of 3 years, he persistently exhibited proteinuria, and examination of a kidney biopsy specimen indicated focal segmental glomerulosclerosis (FSGS)-like lesions. Repeated corticosteroid treatments were found to be ineffective. After the age of 18 years, the patient was lost to follow-up and treatment was discontinued. The patient presented to our hospital again at the age of 32 years with advanced kidney dysfunction with low-molecular-weight proteinuria (LMWP), along with proximal tubular dysfunction and nephrocalcinosis. The patient's 5-year-old nephew was also found to have LMWP from the age of 7 months. Therefore, Dent disease was suspected and genetic testing in the patient and his nephew revealed a CLCN5 mutation. Our case report suggests that J-Dent may cause advanced kidney dysfunction in adulthood, and, therefo...Continue Reading

References

Jan 3, 2001·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·T TakemuraK Yoshioka
Jun 1, 1964·Archives of Disease in Childhood·C E DENT, M FRIEDMAN
Aug 19, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Lawrence CopelovitchBernard S Kaplan
Oct 7, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Yaacov FrishbergEfrat Ben-Shalom
Aug 16, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Alan R WatsonMaher Fouad Ramzy

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Citations

Dec 14, 2019·Clinical Journal of the American Society of Nephrology : CJASN·Samuela LandiniPaola Romagnani
Nov 18, 2020·International Journal of Environmental Research and Public Health·Francesca BecherucciPaola Romagnani

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