Samardzic Mira, Pavicevic Snezana, Ludwig Michael, Bogdanovic Radovan
Institute for Sick Children, Department of Endocrinology and Nephrology, Ljubljanska bb, 20 000 Podgorica, Montenegro.
J Med Case Rep. 2011 Aug 22;5:400. doi: 10.1186/1752-1947-5-400.
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.
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 1.53 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.
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.
丹特病是一种X连锁隐性近端肾小管病，其特征为低分子量蛋白尿、高钙尿症、肾钙质沉着症、肾结石和进行性肾衰竭。据我们所知，这是关于生长激素治疗与丹特病相关生长发育不良儿童的第三篇报道。
我们报告一名7岁黑山男孩，患有蛋白尿、高钙尿症、肾钙质沉着症、佝偻病和身材矮小，生长激素分泌未受损。分子遗传学分析显示CLCN5基因上存在S244L替代。在接受氢氯噻嗪常规治疗两年后，实验室检查显示蛋白尿更明显、轻度低磷血症、碱性磷酸酶值升高以及佝偻病特征。治疗中加入了磷酸盐、骨化三醇、枸橼酸钾和生长激素。治疗三年后，他的校正父母身高比生长激素治疗开始时高出1.53个标准差。他的整体肾功能以及蛋白尿和钙尿水平保持相对稳定。尽管进行了生长激素治疗，他的肾小管对磷酸盐的重吸收仍恶化。
重组人生长激素治疗可能对患有丹特病和低磷血症性佝偻病且生长发育不良的儿童的最终身高产生积极影响。然而，由于文献中的样本量小且治疗时间短，无法得出明确结论。
