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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-11-02

AUTHORS

Ken Saida, Yuji Kamijo, Daisuke Matsuoka, Shunsuke Noda, Yoshihiko Hidaka, Tetsuo Mori, Hisashi Shimojo, Takashi Ehara, Kenichiro Miura, Junko Takita, Takashi Sekine, Takashi Igarashi, Kenichi 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, therefore, close collaboration between pediatricians and nephrologists is essential for the early identification of this complication. When male patients exhibit chronic kidney disease (CKD) of unknown etiology along with proximal tubular dysfunction and nephrocalcinosis, Dent disease should be considered. Investigations of undiagnosed adult J-Dent cases and further research on the natural history of J-Dent will help us better understand its clinical characteristics, prognosis, and effective treatment options. More... »

PAGES

132-138

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s13730-013-0102-1

DOI

http://dx.doi.org/10.1007/s13730-013-0102-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009194175

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28509186


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