Department of Endocrinology, Key Laboratory of Endocrinology, Dongcheng District, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, No.1 Shuaifuyuan, Beijing, 100730, China.
Orphanet J Rare Dis. 2023 Nov 28;18(1):367. doi: 10.1186/s13023-023-02979-w.
Pseudohypoparathyroidism type 1 (PHP1) is a rare disease featuring hypocalcemia and elevated PTH level. Though disturbed calcium and phosphorus metabolism under PTH resistant have been widely studied, glucolipid metabolism abnormalities observed in PHP1 patients have received little attention. The aim of this research is to explore the glucolipid metabolism features in a rather large cohort of PHP1 patient. In the current study, PHP1 patients and primary hyperparathyroidism patients as well as normal control were recruited for the investigation. Glucolipid metabolic indices as well as the level of four adipokines were examined.
A total of 49 PHP1 patients, 64 PHPT patients and 30 healthy volunteers were enrolled. A trend of higher HOMA-β index was found in PHP1 patients than normal controls (median 97.08% vs 68.19%, p = 0.060). Both the PHP1 and PHPT group presented with significantly lower TNFα level compared to normal controls (average 10.74 pg/ml and 12.53 pg/ml vs 15.47 pg/ml, p = 0.002 and 0.041, respectively). FGF21 level was significantly higher in PHPT group than in PHP1 group (median 255.74 pg/ml vs 167.46 pg/ml, p = 0.019). No significant difference in glucolipid metabolic indices and adipokines was found between PHP1A or PHP1B patients and normal controls, while overweight/obese PHP1 patients tended to have higher leptin than normal-BMI cases (p = 0.055). Multiple linear regression analysis showed BMI rather than PTH or HOMA-IR to be an independent variable of leptin in PHP1.
Metabolic stress given upon especially overweight PHP1 patients may resulted in possible β-cell compensation. Elevated TNFα may be related with hyper-PTH level regardless of calcium level.
假性甲状旁腺功能减退症 1 型（PHP1）是一种罕见的疾病，其特征是低钙血症和甲状旁腺激素水平升高。尽管人们广泛研究了 PTH 抵抗下钙磷代谢紊乱，但 PHP1 患者中观察到的糖脂代谢异常却很少受到关注。本研究旨在探索相当大的 PHP1 患者队列的糖脂代谢特征。在目前的研究中，招募了 PHP1 患者、原发性甲状旁腺功能亢进症患者和正常对照组进行研究。检查了糖脂代谢指标和四种脂肪因子的水平。
共纳入 49 例 PHP1 患者、64 例 PHPT 患者和 30 名健康志愿者。PHP1 患者的 HOMA-β 指数呈升高趋势，高于正常对照组（中位数 97.08%比 68.19%，p=0.060）。与正常对照组相比，PHP1 组和 PHPT 组的 TNFα 水平均显著降低（平均 10.74pg/ml 和 12.53pg/ml 比 15.47pg/ml，p=0.002 和 0.041）。PHPT 组的 FGF21 水平显著高于 PHP1 组（中位数 255.74pg/ml 比 167.46pg/ml，p=0.019）。PHP1A 或 PHP1B 患者与正常对照组之间的糖脂代谢指标和脂肪因子无显著差异，而超重/肥胖的 PHP1 患者的瘦素水平高于正常 BMI 病例（p=0.055）。多元线性回归分析显示，BMI 而不是 PTH 或 HOMA-IR，是 PHP1 中瘦素的独立变量。
超重的 PHP1 患者的代谢应激可能导致β细胞代偿。升高的 TNFα 可能与高 PTH 水平有关，而与钙水平无关。
