BACKGROUND: Dent disease (DD) is a rare X-linked tubulopathy characterized by a proximal tubular dysfunction leading to nephrocalcinosis/nephrolithiasis and progressive renal failure. The disease is associated with a mutation either in CLCN5 or OCRL genes. We aim to define clinical and genetic disease characteristics and summarize treatments of Polish patients with DD. METHODS: The study cohort consists of 10 boys (aged 5 - 16.5 years) whose data were collected through POLtube Registry. RESULTS: All of the patients had tubular proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis. Renal impairment and growth deficiency were found in 3 patients and rickets in 2 patients. In total, 9 of 10 patients carried a mutation in the CLCN5 gene. Five of 9 detected mutations were novel. In 1 patient with a clinical phenotype of DD, no mutations in either CLCN5 or OCRL were discovered. Therapy consisted of thiazides in 7 patients, and phosphate supplements and enalapril in 3 cases. Growth hormone therapy was initiated in 3 patients and resulted in improved growth rate. CONCLUSIONS: We report clinical and molecular characterization of Polish children with DD. Our study suggests that this tubulopathy may be generally under-diagnosed in Poland. The study revealed variable treatments, demonstrating a need for therapeutic guidelines.
BACKGROUND:Dent disease (DD) is a rare X-linked tubulopathy characterized by a proximal tubular dysfunction leading to nephrocalcinosis/nephrolithiasis and progressive renal failure. The disease is associated with a mutation either in CLCN5 or OCRL genes. We aim to define clinical and genetic disease characteristics and summarize treatments of Polish patients with DD. METHODS: The study cohort consists of 10 boys (aged 5 - 16.5 years) whose data were collected through POLtube Registry. RESULTS: All of the patients had tubular proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis. Renal impairment and growth deficiency were found in 3 patients and rickets in 2 patients. In total, 9 of 10 patients carried a mutation in the CLCN5 gene. Five of 9 detected mutations were novel. In 1 patient with a clinical phenotype of DD, no mutations in either CLCN5 or OCRL were discovered. Therapy consisted of thiazides in 7 patients, and phosphate supplements and enalapril in 3 cases. Growth hormone therapy was initiated in 3 patients and resulted in improved growth rate. CONCLUSIONS: We report clinical and molecular characterization of Polish children with DD. Our study suggests that this tubulopathy may be generally under-diagnosed in Poland. The study revealed variable treatments, demonstrating a need for therapeutic guidelines.
Authors: Marcin Zaniew; Małgorzata Mizerska-Wasiak; Iga Załuska-Leśniewska; Piotr Adamczyk; Katarzyna Kiliś-Pstrusińska; Adam Haliński; Jan Zawadzki; Beata S Lipska-Ziętkiewicz; Krzysztof Pawlaczyk; Przemysław Sikora; Michael Ludwig; Maria Szczepańska Journal: Int Urol Nephrol Date: 2017-08-16 Impact factor: 2.370
Authors: Xiangling Wang; Franca Anglani; Lada Beara-Lasic; Anila J Mehta; Lisa E Vaughan; Loren Herrera Hernandez; Andrea Cogal; Steven J Scheinman; Gema Ariceta; Robert Isom; Lawrence Copelovitch; Felicity T Enders; Dorella Del Prete; Giuseppe Vezzoli; Fabio Paglialonga; Peter C Harris; John C Lieske Journal: Clin J Am Soc Nephrol Date: 2016-10-03 Impact factor: 8.237
Authors: Megan L Gliozzi; Youssef Rbaibi; Kimberly R Long; Dario A Vitturi; Ora A Weisz Journal: Am J Physiol Cell Physiol Date: 2019-09-11 Impact factor: 4.249