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目的分析Fanconi-Bickel综合征的临床表现、实验室特征、影像学表现及DNA直接测序结果,探讨其诊断及鉴别诊断,提高儿科医师对该病的认识。方法报道中国首例Fanconi-Bickel综合征患儿,对其症状、体征、个人史、实验室检查及基因测序结果进行描述,评价对症治疗3个月后疗效,并结合文献复习对Fanconi-Bickel综合征进行分析。结果本例为2岁女性患儿,存在严重的生长发育落后、腹胀,体检及影像学检查发现幼稚面容、肝大及佝偻病,实验室检查证实患儿存在低磷性佝偻病、近端肾小管酸中毒,餐前低血糖及餐后高血糖,尿中存在蛋白、氨基酸及糖。DNA直接测序提示内含子8+5的位置纯合G>C剪切突变。经过3个月对症支持治疗,患儿可独自站立及扶物行走,复查碱性磷酸酶(ALP)430 U.L-1,空腹血糖3.7 mmol.L-1。影像学检查示双手、双足手足镯及串珠肋逐渐消失。结论对于存在近端肾小管酸中毒同时存在低血糖、佝偻病、氨基酸及蛋白尿的患儿,应考虑Fanconi-Bickel综合征,早期诊断和治疗,可改善患儿生长发育落后、佝偻病等临床症状,提高患儿的生活质量。
Objective To analyze the clinical manifestations, laboratory features, imaging findings and direct DNA sequencing of Fanconi-Bickel syndrome to explore its diagnosis and differential diagnosis, and to improve pediatricians’ understanding of the disease. Methods The first case of Fanconi-Bickel syndrome in China was reported and its symptoms, signs, personal history, laboratory tests and gene sequencing results were described. The curative effect after 3 months of symptomatic treatment was evaluated. Combined with literature review, Fanconi-Bickel syndrome Levy for analysis. The results of this case for 2-year-old female children, there are serious growth and development of backward, bloating, physical examination and imaging studies found that naive face, liver and rickets, laboratory tests confirmed that children with hypophosphatemic rickets, proximal renal tubular acid Poisoning, pre-meal hypoglycemia and postprandial hyperglycemia, urinary protein, amino acids and sugars. DNA direct sequencing suggests that intron 8 + 5 is homozygous for a G> C cleavage mutation. After 3 months of symptomatic and supportive treatment, children can stand alone and walk on their arms. Alkaline phosphatase (ALP) 430 U.L-1 and fasting blood glucose 3.7 mmol.L-1 were reviewed. Imaging examination showed both hands, foot bracelets and beaded ribs gradually disappear. Conclusion Fanconi-Bickel syndrome, early diagnosis and treatment should be considered in children with proximal renal tubular acidosis who have hypoglycemia, rickets, amino acids and proteinuria, which can improve the clinical symptoms such as poor growth and rickets and rickets in children, Improve children’s quality of life.