Clinical and CLCN5 genetic mutation analysis of Dent's disease in children

Objective Dent disease is a rare X-linked recessive renal tubular disease. This study aimed to enhance the recognition of dent disease by exploring the clinical characteristics and genetic features.Methods Methods The clinical data of 3 children with Dent disease, genetic test results for CLCN5, and relevant literatures were analyzed retrospectively for further recognizing the clinical/genetic phenotype of Dent disease and subsequently summarizing experience.Results The onset age of 3 children was 1-5 years, while the age at diagnosis was 1-7 years. Massive proteinuria, which was subsequently proved to be low molecular weight proteinuria (LMWP), was defined as the initial symptom in all patients. Meanwhile, varying degrees of hypercalciuria and microhematuria were also observed. All 3 patients displayed normal activity of lactate dehydrogena, no hypertension, no renal insufficiency, no anemia, no renal calculus or nephrocalcinosis, no renal tubular acidosis, no rickets or dwarfism, no mental retardation, normal ophthalmic examination, no aminoaciduria or glycosuria, no family history of kidney diseases, and normal level of serum urea nitrogen, creatinine, albumin, potassium, sodium, chlorine, calcium, magnesium and phosphate. Genetic testing demonstrated 3 de novo mutations:2 of missense mutation and 1 of phase-shift mutation. Among them, the mutation of c.779G>A had been reported in previous studies, while others of c.1711C>T(E12) and c.458 (E7)_c.459(E7)insA were the first discovered mutations.Conclusions The clinical manifestations of Dent disease, which are also related to the disease course, are varied among children. Early detection and diagnosis of Dent disease by genetic testing may be an effective strategy to avoid excessive immunosuppressive-therapy.