Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Effect of growth hormone replacement therapy in a boy with Dent’s disease: a case report | Samardzic et al. Journal of Medical Case Reports 2011 5 400 http content 5 1 400 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Effect of growth hormone replacement therapy in a boy with Dent s disease a case report Mira Samardzic1 Snezana Pavicevic1 Michael Ludwig2 and Radovan Bogdanovic3 Abstract Introduction Dent s disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria hypercalciuria nephrocalcinosis nephrolithiasis and progressive renal failure. To the best of our knowledge this is only the third report on the use of growth hormone therapy in a child with poor growth associated with Dent s disease. Case presentation We report on a 7-year-old Montenegrin boy with proteinuria hypercalciuria nephrocalcinosis rickets and short stature with unimpaired growth hormone secretion. A molecular genetic analysis showed S244L substitution on the CLCN5 gene. After two years of conventional treatment with hydrochlorothiazide laboratory tests revealed more prominent proteinuria mild hypophosphatemia increased values of alkaline phosphatase and features of rickets. Phosphate salts calcitriol potassium citrate and growth hormone were included in the therapy. After three years of therapy his adjusted parental stature was standard deviations higher than at the initiation of growth hormone therapy. His global kidney functions and levels of proteinuria and calciuria remained relatively stable. In spite of the growth hormone therapy his tubular reabsorption of phosphate deteriorated. Conclusion Treatment with recombinant human growth hormone may have a positive effect on final height in poorly growing children with Dent s disease and hypophosphatemic rickets. However it is not possible to reach definite conclusions due to the small sample within the literature and the brief duration of the therapy. Introduction Dent s disease is an X-linked recessive proximal tubulopathy characterized by low .
