1.Sarcoidosis with hypercalcemic and mediastinal lymphadenectasis: A case report
Jian LI ; Qingge GAO ; Li XU ; Chaoyu ZHU ; Yuanyuan XIAO ; Jing YU ; Fusong JIANG ; Li WEI
Chinese Journal of Endocrinology and Metabolism 2019;35(2):157-160
Hypercalcemia is an abnormal calcium metabolism, which can be caused by many diseases. Hypercalcemia caused by sarcoidosis is unusual. Sarcoidosis is a systemic granulomatous disease, it is lack of specificity in initial manifestations and easy to be misdiagnosed. In this paper, we report a patient with hypercalcemia and mediastinal lymphadenectasis, which the first diagnosis was misdiagnosed as tumour. Finally, sarcoidosis was diagnosed by mediastinal lymph node biopsy, and the patient was subsequently treated with glucocorticoid. Prednisone treatment improved symptoms of sarcoidosis, normalised serum calcium and mediastinal lymph nodes were diminished. This case suggests that clinicians need to raise awareness of sarcoidosis to identify and diagnose it correctly.
2.Association between variation of WFS1 gene and early-onset type 2 diabetes mellitus in Chinese population
Chanwei LIU ; Xiaoxu GE ; Ming LI ; Tiantian LI ; Langen ZHUANG ; Rong ZHANG ; Juan ZHANG ; Yating CHEN ; Fusong JIANG ; Limei LIU
Chinese Journal of Diabetes 2024;32(7):481-487
Objective To explore the association between R611H(G/A,rs734312)variation of WFS1 gene and early-onset type 2 diabetes mellitus(T2DM).Methods A total of 181 Chinese patients with early-onset T2DM(T2DM group)and 196 non-diabetic controls(NC group)were enrolled in this study.The rs734312 variation was detected by PCR-direct sequencing.Genotypic and allelic frequencies of rs734312 and clinical variables were compared and analyzed between the two groups.Results Compared with the NC group,the frequencies of AA genotype and A allele in R611H(G→A)variation were significantly elevated in the early-onset T2DM group,AA vs GA+GG(OR 1.720,95%CI 1.100~2.680,P<0.05).A vs G(OR 1.500,95%CI 1.020~2.220,P<0.05).The remarkable differences of frequencies of genotype and allele in rs734312(G/A)were observed between Asians(China,Japan and Korea)and Caucasians(Denmark,Britain,Spain,France and Russia,P<0.01 for each).Compared with AA genotype,fasting and 2 hours postprandial insulin(FIns and 2 hIns)as well as HOMA-β were significantly rise in GG+GA genotype carriers of early-onset T2DM group(P<0.05).Conclusions The a allele of rs734312 in WFS1 may be a risk factor for early-onset T2DM in Chinese population,and the variation might be a potential genetic marker for predicting the islet β-cell dysfunction in early-onset T2DM in Chinese population.