Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.

Taozi DuYu XiaChengkai SunZhuwen GongLili LiangZizhen GongRuifang WangDeyun LuKaichuang ZhangYi YangYuning SunManqing SunYu SunBing XiaoWenjuan Qiu

Published in: Orphanet journal of rare diseases (2024)

Early diagnosis of FBS is difficult due to the heterogeneity of initial symptoms. Although short stature is a major issue of treatment for FBS, rhGH is not recommended in FBS patients who have normal GH stimulation tests. Patients with biallelic null variants may require alkali supplementation since urine bicarbonate loss is genetically related. ROH is a mechanism for rare homozygous variants of FBS in nonconsanguineous families.

Keyphrases

copy number
end stage renal disease
chronic kidney disease
newly diagnosed
prognostic factors
growth hormone
stem cells
single cell
patient reported outcomes
gene expression
physical activity
case report
depressive symptoms
dna methylation
combination therapy
sleep quality
recombinant human
cell therapy