TY - JOUR AU - Bitsori, Maria; Vergadi, Eleni; Galanakis, Emmanouil TI - A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease SN - 2146-4596 SN - 2146-460X PY - 2019 JO - J Pediatr Genet JF - Journal of Pediatric Genetics LA - EN VL - 08 IS - 04 SP - 235 EP - 239 ET - 2019/06/04 DA - 2019/11/01 KW - Dent disease KW - CLCN5 mutation KW - proteinuria KW - hypercalciuria AB - Dent disease is a rare X-linked renal proximal tubulopathy presenting with low-molecular-weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis, other signs of incomplete renal Fanconi syndrome, and renal failure. Early identification of patients who harbor disease-associated mutations is important for effective medical care and avoidance of unnecessary interventions. We report the case of an asymptomatic 9-year-old boy who presented with proteinuria in routine examination. Further investigation revealed the presence of nephrotic range proteinuria, mostly LMWP and mild hypercalciuria without nephrocalcinosis, or other features of tubular dysfunction. Renal function, growth, and bone mineral density were within regular limits. The male gender and the presence of LMWP and hypercalciuria even in the absence of other findings prompted us to genetic investigation for Dent disease. A novel splice site mutation (c.416–2A > G) of the chloride voltage-gated channel 5 (CLCN5) gene, responsible for Dent disease type 1 was identified. In silico analysis revealed that this mutation interferes with the mating of exons 4 and 5. Due to early molecular diagnosis, our patient did not undergo a renal biopsy, neither required aggressive pharmacological interventions. This case underscores the diversity and complexity of CLCN5 mutations and highlights the importance of early molecular testing in male patients with incomplete phenotype of Dent disease. PB - Georg Thieme Verlag KG DO - 10.1055/s-0039-1692172 UR - http://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0039-1692172 ER -