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Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

机译:生长激素替代疗法在男孩登特氏病中的作用:一例报告

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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 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. 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.
机译:简介登特氏病是一种X连锁隐性近端肾小管病,其特征是低分子量蛋白尿,高钙尿症,肾钙化病,肾结石病和进行性肾衰竭。据我们所知,这只是关于生长激素治疗在与登特氏病相关的生长不良的儿童中使用的第三次报告。病例报告我们报告了一个7岁的黑山男孩,患有蛋白尿,高钙尿症,肾钙化病,病和身材矮小,生长激素分泌未受损害。分子遗传学分析显示在CLCN5基因上有S244L取代。经过两年的氢氯噻嗪常规治疗后,实验室测试显示蛋白尿增多,轻度低磷血症,碱性磷酸酶值升高和病。该治疗包括磷酸盐,骨化三醇,柠檬酸钾和生长激素。经过三年的治疗,他调整后的父母身高比开始生长激素治疗时高1.53个标准差。他的整体肾脏功能以及蛋白尿和钙尿症的水平保持相对稳定。尽管进行了生长激素治疗,但其肾小管对磷酸盐的重吸收却恶化了。结论重组人生长激素治疗可能对生长缓慢的登特氏病和低磷phosphate病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少且治疗时间短,不可能得出明确的结论。

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