| Citation: | CHEN Yanna, GU Wensha, ZHOU Yue, HU Changjun, CAO Huimin, SHI Min. A case report of pseudohypoparathyroidism with epilepsy as the initial symptom[J]. Chinese Journal of General Practice, 2026, 24(6): 1081-1084. doi: 10.16766/j.cnki.issn.1674-4152.004559 |
| [1] |
NAGANUMA J, SUZUMURA H, KOYAMA S, et al. Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review[J]. Clin Pediatr Endocrinol, 2024, 33(3): 151-156. doi: 10.1297/cpe.2023-0080
|
| [2] |
MADURO A I, PINTO SARAIVA A, PIMENTA RODRIGUES O, et al. Albright's hereditary osteodystrophy: an entity to recognize[J]. Rheumatology (Oxford), 2022, 61(11): e356-e357. DOI: 10.1093/rheumatology/keac277.
|
| [3] |
简丽, 蔡勇, 何阳杰, 等. 假性甲状旁腺功能减退症Ⅰa型合并急性脑卒中1例及文献回顾[J]. 中华全科医学, 2021, 19(9): 1608-1611. doi: 10.16766/j.cnki.issn.1674-4152.002123
Jian L, Cai Y, He Y J, et al. A case of pseudohypoparathyroidism type Ia combined with acute stroke and literature review[J]. Chinese Journal of General Practice, 2021, 19(9): 1608-1611. doi: 10.16766/j.cnki.issn.1674-4152.002123
|
| [4] |
赵子暄, 权莉, 蒋升. 假性甲状旁腺功能减退症的临床进展[J]. 新疆医学, 2023, 53(6): 657-659.
Zhao Z X, Quan L I, Jiang S. Clinical progress of pseudohypoparathyroidism[J]. Xinjiang Medical Journal, 2023, 53(6): 657-659.
|
| [5] |
JANUŚ D, ROZTOCZYŃSKA D, JANECZKO M, et al. New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): one-centre preliminary results[J]. Front Endocrinol (Lausanne), 2022, 13: 1012658. DOI: 10.3389/fendo.2022.1012658.
|
| [6] |
SLOUMA M, HANNECH E, GHARSALLAH I. Hypoparathyroidism: musculoskeletal manifestations related to parathormone deficiency[J]. Curr Rheumatol Rev, 2024, 20(5): 488-500. doi: 10.2174/0115733971267895231227102539
|
| [7] |
杨文君, 龙晓丹, 莫朝晖, 等. GNAS基因突变致2例假性甲状旁腺功能减退症Ⅰa型[J]. 中华骨质疏松和骨矿盐疾病杂志, 2021, 14(6): 601-606.
Yang W J, Long X D, Mo C H, et al. Two cases of pseudohypoparathyroidism type Ⅰa caused by GNAS gene mutation[J]. Chin J Osteoporos Bone Miner Res, 2021, 14(6): 601-606.
|
| [8] |
EXPÓSITO RASPEÑO M, SÁNCHEZ ESCUDERO V, PÉREZ DE NANCLARES LEAL G, et al. Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report[J]. J Pediatr Endocrinol Metab, 2024, 37(3): 289-295. doi: 10.1515/jpem-2023-0454
|
| [9] |
URAKAWA T, SANO S, KAWASHIMA S, et al. (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B[J]. Eur J Endocrinol, 2023, 189(6): 590-600. doi: 10.1093/ejendo/lvad163
|
| [10] |
LUO D D, QI X Y, LIU L N, et al. Genetic and epigenetic characteristics of autosomal dominant pseudohypoparathyroidism Type 1B: case reports and literature review[J]. Horm Metab Res, 2021, 53(4): 225-235. doi: 10.1055/a-1341-9891
|
| [11] |
YOON S H, MEYER M B, AREVALO C, et al. A parathyroid hormone/salt-inducible kinase signaling axis controls renal vitamin D activation and organismal calcium homeostasis[J]. J Clin Invest, 2023, 133(9): e163627. DOI: 10.1172/JCI163627.
|
| [12] |
JÜPPNER H. Molecular definition of pseudohypoparathyroidism variants[J]. J Clin Endocrinol Metab, 2021, 106(6): 1541-1552. doi: 10.1210/clinem/dgab060
|
| [13] |
范娟, 高升波, 魏玉娇, 等. 终末期肾病病人骨桥蛋白水平与冠状动脉钙化相关性[J]. 青岛大学学报(医学版), 2021, 57(4): 517-521.
Fan J, Gao S B, Wei Y J, et al. Relationship between osteopontin level and coronary artery calcification in patients with end-stage renal disease[J], J of Qindao University(Medical sciences), 2021, 57(4): 517-521.
|
| [14] |
马海燕, 朱海涛, 杨露, 等. 以癫痫样发作为主要表现的甲状旁腺功能减退症的临床特征分析[J]. 临床神经病学杂志, 2023, 36(3): 165-169.
Ma H Y, Zhu H T, Yang L, et al. Analysis of clinial features of hypoparathyroidism with epileptiform as the main manifestation[J], J Clin Neurol, 2023, 36(3): 165-169.
|
| [15] |
迟秀娥, 张倩, 李文东, 等. 误诊为癫痫的假性甲状旁腺功能减退症Ⅰa型1例并文献复习[J]. 临床荟萃, 2022, 37(9): 827-830.
Chi X E, Zhang Q, Li W D, et al. Pseudohypoparathyroidism type Ⅰa misdiagnosed as epilepsy: a case report and literatures review[J]. Clinal Focus, 2022, 37(9): 827-830.
|
| [16] |
ABBAS A, HAMMAD A S, AL-SHAFAI M. The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity[J]. Mutat Res Rev Mutat Res, 2024, 793: 108487. DOI: 10.1016/j.mrrev.2023.108487.
|