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931.
《Annales d'endocrinologie》2023,84(4):460-465
Treatment of chronic hypoparathyroidism remains a therapeutic challenge. In three quarters of cases, this endocrine disorder arises as a consequence of neck surgery, but it can also present in other disease settings, for example, in rare genetic disorders. Conventional standard of care treatment is based on oral administration of calcium and vitamin D. However, a significant proportion of patients remain uncontrolled biochemically under this treatment, with persistent clinical symptoms that affect quality of life. Administration of parathyroid hormone (PTH) in more recent times has encountered the problem of the short half-life of the hormone, which necessitates multiple daily injections or continuous subcutaneous administration controlled by a pump. Recently, progress in understanding the pathophysiology of hypoparathyroidism has opened the possibility of new therapeutic approaches using longer-acting forms of PTH, PTH receptor analogs or, more recently, calcilytic agents. These are the subjects of current clinical trials, with encouraging results. However, their possible future use will depend on their long-term impacts on bone metabolism and renal function, which remain to be determined. 相似文献
932.
Ali Alamer 《Radiology Case Reports》2022,17(3):553
Skeletal changes are a common complication in patients with chronic kidney disease and traditionally labelled as renal osteodystrophy. Uremic leontiasis ossea is a rare and severe form of renal osteodystrophy with characteristic overgrowth of the craniofacial bones. Imaging, in particular computed tomography, is valuable for the diagnosis and management of such rare condition. Uremic leontiasis ossea has distinctive imaging features with significant overgrowth of the jaw and characteristic internal serpiginous tunneling. The recognition of its radiological appearance and abrupt management are essential to avoid its devastating esthetic and functional impairments. 相似文献
933.
【摘要】 目的 探讨维持性血液透析患者动静脉内瘘血管壁改变与钙磷代谢和甲状旁腺激素(PTH)的相关性,为临床血液透析患者钙磷代谢紊乱的调节提供依据。方法 纳入2013年1月至2015年12月于我院住院行动静脉内瘘手术的维持性血液透析患者共32例,收集所有患者的基本资料及实验室检查结果,包括性别、年龄、原发病、透析年龄、总胆固醇(CHOL)、HDL、LDL、TG、ALB、钙、磷、PTH的检测结果。所有患者在手术中留取少许动静脉内瘘动脉端血管标本进行分析。根据患者血清PTH的水平将其分为甲组(PTH<400 pg/ml)和乙组(PTH≥400 pg/ml),比较两组患者血管壁的厚度及血清钙磷代谢情况。结果 乙组患者血管内膜的厚度(IT)大于甲组患者,差异具有统计学意义(378±148 vs. 602±241,P=0003 )。乙组患者发生血管内膜厚度≥60 μm的风险是甲组的8倍(CI:127~6261,P<0005),两组患者血管钙化情况比较差异无统计学意义(P=0862)。回归分析提示PTH水平是患者血管壁增厚的独立危险因素(r=0653,P<005)。结论 维持性血液透析患者血管厚度与血清PTH水平密切相关,高PTH是患者血管损伤的独立危险因素。 相似文献
934.
Tooth eruption is an important and unique biological process during craniofacial development. Both the genetic and environmental factors can interfere with this process. Here we aimed to find the failure pattern of tooth eruption among five genetic diseases. Both systematic review and meta-analysis were used to identify the genotype–phenotype associations of unerupted teeth. The meta-analysis was based on the characteristics of abnormal tooth eruption in 223 patients with the mutations in PTH1R, RUNX2, COL1A1/2, CLCN7, and FAM20A respectively. We found all the patients presented selective failure of tooth eruption (SFTE). Primary failure of eruption patients with PTH1R mutations showed primary or isolated SFTE1 in the first and second molars (59.3% and 52% respectively). RUNX2 related cleidocranial dysplasia usually had SFTE2 in canines and premolars, while COL1A1/2 related osteogenesis imperfecta mostly caused SFTE3 in the maxillary second molars (22.9%). In CLCN7 related osteopetrosis, the second molars and mandibular first molars were the most affected. While FAM20A related enamel renal syndrome most caused SFTE5 in the second molars (86.2%) and maxillary canines. In conclusion, the SFTE was the common characteristics of most genetic diseases with abnormal isolated or syndromic tooth eruption. The selective pattern of unerupted teeth was gene-dependent. Here we recommend SFTE to classify those genetic unerupted teeth and guide for precise molecular diagnosis and treatment. 相似文献