Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency
Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency
复制标题
DOI：
10.1007/s13730-017-0249-2
复制
发表时间：
2017-05-01
期刊：
影响因子：
1
通讯作者：
Takahashi, Toshiyuki
中科院分区：
文献类型：
--
作者：
Okamoto, Takayuki;Sato, Yasuyuki;Takahashi, Toshiyuki
特发性范可尼综合征 (FS) 的特点是肾近端小管普遍功能障碍。 FS 患者常常因复杂因素而表现出生长迟缓，如低磷血症、代谢性酸中毒、维生素 D 代谢紊乱和低钾血症。迄今为止，已有一名 FS 患者因生长激素缺乏（GHD）而出现生长障碍的报道，但重组人 GH（rhGH）治疗的长期临床过程尚未见报道。 10个月大时，患者因生长障碍入院。血液和尿液生化异常，如低磷血症、代谢性酸中毒、糖尿和低分子量蛋白尿，表明肾近曲小管普遍存在功能障碍。排除胱氨酸中毒、胶原病、有毒物质和代谢性疾病的存在。这些特征与特发性 FS 兼容。开始使用高剂量碱、柠檬酸钾、磷酸盐缓冲液、氢氯噻嗪和维生素 D 补充剂进行治疗。生化异常达到接近正常值，患者2岁时身高在-2.5 SD以内。然而，他的身高并没有继续以同样的速度增长，并在4岁时逐渐下降至-2.9 SD。 GH刺激试验显示GHD。开始rhGH治疗后，他的身高在9岁时改善至-2.0 SD，且没有任何副作用。总之，我们报告了一名患有 FS 和 GHD 的患者继续 rhGH 治疗 5 年的病例。对于身材矮小的 FS 患者，还应考虑 GHD 的鉴别诊断。
Idiopathic Fanconi syndrome (FS) is characterized by a generalized dysfunction of the renal proximal tubules. Patients with FS often exhibit growth retardation due to complex factors, such as hypophosphatemia, metabolic acidosis, disturbed vitamin D metabolism and hypokalemia. To date, one FS patient has been reported to exhibit growth failure due to growth hormone deficiency (GHD), but the long-term clinical course of recombinant human GH (rhGH) therapy has not been reported. At 10 months of age, the patient was admitted to our hospital due to growth failure. Blood and urinary biochemical abnormalities, such as hypophosphatemia, metabolic acidosis, glycosuria and low-molecular-weight proteinuria, indicated a generalized dysfunction of the renal proximal tubules. The presence of cystinosis, collagen diseases, toxic agents and metabolic diseases were excluded. These features are compatible with idiopathic FS. Treatment with high-dose alkali, potassium citrate, phosphate buffer, hydrochlorothiazide and vitamin D supplement was initiated. The biochemical abnormalities achieved nearly normal values, and the patient's height was within -2.5 SD at the age of 2 years. However, his height did not continue to increase at the same rate and gradually declined to -2.9 SD at 4 years of age. GH stimulation test demonstrated GHD. After initiation of rhGH therapy, his height improved to -2.0 SD at the age of 9 years with no adverse effects. In conclusion, we report the case of a patient with FS and GHD who continued rhGH therapy for 5 years. The differential diagnosis of GHD should also be considered for FS patients with short stature.