| Title |
Dent disease type 1: still an under-recognized renal proximal tubulopathy: a case report |
| Authors |
Vitkauskaitė, Monika ; Čerkauskaitė, Agnė ; Miglinas, Marius |
| DOI |
10.3390/reports5040050 |
| Full Text |
|
| Is Part of |
Reports.. Basel : MDPI. 2022, vol. 5, iss. 4, art. no. 50, [p. 1-8].. eISSN 2571-841X |
| Keywords [eng] |
dent disease ; nephrology ; renal failure ; rare disease ; genetic ; case report |
| Abstract [eng] |
Dent disease is a rare renal tubular disorder that appears almost exclusively in males. The diagnosis is still challenging, and therefore Dent disease is occasionally misdiagnosed. We report a case of a 45-year-old man with Dent disease who developed renal failure. Since the age of 7 months, he persistently exhibited proteinuria. At the age of 24 years, he underwent kidney biopsy, which revealed focal segmental glomerulosclerosis. The patient’s brother was found to have proteinuria since he was 2 years old. At the age of 45 years, the patient was transferred to a tertiary care nephrologist, and Dent disease was suspected. Genetic testing revealed a CLCN5 mutation. We highlight the broad spectrum of clinical manifestations in Dent disease and the importance of having a high clinical suspicion to attain a definitive diagnosis. Furthermore, future research regarding the clinical course of the disease, prognosis, and effective treatment options is needed. |
| Published |
Basel : MDPI |
| Type |
Journal article |
| Language |
English |
| Publication date |
2022 |
| CC license |
|
