Hypoparathyroidism with Fahr’s syndrome: A case report and review of the literature

BACKGROUND Hypoparathyroidism with basal ganglia calcification is clinically rare.Here,we report a case of Fahr’s syndrome due to hypoparathyroidism and review the literature in terms of etiology,clinical manifestation,diagnosis,and treatment.CASE SUMMARY A 62-year-old man experienced repeated twitching of both hands in recent 10 years.On July 28,2017,the patient was admitted to our hospital due to slow response and speech difficulties.On medical examinations,he had a positive Chvostek sign,while no Albright’s hereditary osteodystrophy signs or history of neck surgery or radiation,and his family members had no similar medical history.Laboratory examinations revealed hypocalcemia,hyperphosphatemia,and low parathyroid hormone(PTH)levels.Computed tomography revealed basal ganglia calcification.Based on these investigations,a diagnosis of Fahr’s syndrome due to hypoparathyroidism was suggested.After receiving intravenous calcium gluconate to relieve symptoms,the patient continued to take oral calcium carbonate and calcitriol for treatment.CONCLUSION The possibility of hypoparathyroidism should be considered in patients with chronic hypocalcemia,recurrent tetany,and even neuropsychiatric symptoms.Hypoparathyroidism is a common cause of basal ganglia calcification.Therefore,it is recommended that blood calcium,phosphorus,and PTH levels should be measured in all individuals with basal ganglia calcification to exclude hypoparathyroidism.

Primary hypoparathyroidism accompanied by rhabdomyolysis induced by infection: A case report

BACKGROUND Primary hypoparathyroidism(HPT)is rarely seen in the clinic,and it can be combined with rhabdomyolysis.There are few reports about this phenomenon.Therefore,it is significant to explore the etiology that is conducive to early diagnosis,timely treatment,and preventing the recurrence.CASE SUMMARY A 63-year-old man was admitted to our hospital with a severe upper respiratory tract infection and progressing decreased myodynamia of the lower limbs.Blood tests showed creatine kinase>32000 U/L,creatinine 207.8μmol/L,calcium 1.28 mmol/L,myoglobin 558.7 ng/mL,and parathyroid hormone 0 pg/mL.He was diagnosed with primary HPT with rhabdomyolysis,and severe upper respiratory tract infection was considered to be the initial trigger.He responded well to supplementation of intravenous calcium gluconate and oral calcium as well as bedside hemodialysis,fluid hydration,infection control,protecting the liver,etc.Creatine kinase,myoglobin,and serum calcium returned to normal,and muscle strength improved significantly.Symptoms improved after symptomatic treatment.CONCLUSION Severe infection should be prevented,which is the key cause of rhabdomyolysis in patients with HPT.

THE CHANGES OF BONE MINERAL DENSITY IN PATIENTS WITH HYPOPARATHYROIDISM

This study observed the changes of BMD, serum calcium, bone Gla protein and calcitonin of patients with hypoparathyroidism controlled by age and sex matched healthy persons. It was found that BMD was 10% greater in hypoparathyroidism patients than in controls, but the difference was not statistically significant. Serum BGP was significantly lower in hypoparathyroidism patients than in controls (P<0. 02). We postulate that PTH deficiency and long term treatment with calcium and vitamin D for hypoparathyroidism appear to be main mediator of this increased bone mass,and that hone mass is not affected by endogenous calcitonin.

Recurrent Seizures Manifestations in a Case of Congenital Hypoparathyroidism:a Case Report

HYPOPARATHYROIDISM is characterized by hypocalcemia,hyperphosphatemia and low or inappropriately normal levels of parathyroid hormone(PTH).PTH is a key calcium regulating hormone essential for calcium homeostasis,vitamin D-dependent calcium absorption,renal calcium reabsorption and renal phosphate clearance.Hypoparathyroidism may be due to congenital or acquired disorders.Causes include

Treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism with domestic-made calcitrioh a prospective and self-controlled clinical trial

Background Parathyroid hormone deficiency or resistance may cause hypocalcemia with related symptoms and signs. Lifelong treatment of calcium combined with vitamin D or its metabolites is always necessary for these patients. Here we reported a prospective and open-label trial to investigate the efficacy and safety of domestic-made calcitriol in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism. Methods Twenty-four patients with confirmed hypoparathyroidism or pseudohypoparathyroidism aged （36.5±11.0） years old were studied. Among them, 16 patients had idiopathic hypoparathyroidism, 2 had pseudohypoparathyroidism and 6 had hypoparathyroidism secondary to cervical surgery. Serum calcium levels were lower than 1.88 mmol/L. Oral calcitriol was administered twice or three times with elemental calcium 1.2 g per day. All patients were followed every 4 weeks throughout the 12-week period. Dose adjustments of calcitriol were based on serum and urinary calcium levels and symptoms of hypocalcemia. Results Twenty patients were included by the end of this study. Muscular weakness, cramps, extremity paresthesia, Chovestek＇s sign and Trousseau＇s sign were relieved in 76.9%, 100%, 94.4%, 93.3% and 78.9% of patients, respectively. Serum calcium, plasma ionized calcium and serum phosphorus levels were （1.54±0.25） mmol/L, （0.64±0.10） mmol/L and （2.00±0,46） mmol/L at baseline, and reached （2.20±0.20） mmol/L, （0.95±0.06） mmol/L and （1.68±0.25） mmol/L （P 〈0.01） at the 12th week of treatment, respectively. Eighty percent of patients were assessed as effective and 20% as partly effective. Three, four and eight patients had hypercalciuria at the 4th, 8th and 12th week of treatment, respectively, which were reduced by thiazide diuretics. The final dose of calcitriol was （1.09±0.50） ug/d. Conclusions Calcitriol combined with calcium can be used in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism effectively and safely. Serum and urinary calcium levels should be monitored during the course of the therapy.

Advances in the application of auxiliary imaging techniques in parathyroid diseases

Hypoparathyroidism is one of the main complications after total thyroidectomy,severely affecting patients’quality of life.How to effectively protect parathyroid function after surgery and reduce the incidence of hypoparathyroidism has always been a key research area in thyroid surgery.Therefore,precise localization of parathyroid glands during surgery,effective imaging,and accurate surgical resection have become hot topics of concern for thyroid surgeons.In response to this clinical phenomenon,this study compared several different imaging methods for parathyroid surgery,including nanocarbon,indocyanine green,near-infrared imaging techniques,and technetium-99m methoxyisobutylisonitrile combined with gamma probe imaging technology.The advantages and disadvantages of each method were analyzed,providing scientific recommendations for future parathyroid imaging.In recent years,some related basic and clinical research has also been conducted in thyroid surgery.This article reviewed relevant literature and provided an overview of the practical application progress of various imaging techniques in parathyroid surgery.

术后血清MMIF、IL-6及PTH水平与甲状腺乳头状癌术后甲状旁腺功能减退的相关性

目的分析术后血清巨噬细胞移动抑制因子(MMIF)、白介素-6(IL-6)及甲状旁腺激素(PTH)水平与甲状腺乳头状癌术后甲状旁腺功能减退的相关性。方法选取2020年6月至2022年4月于北京市平谷区医院确诊为甲状腺乳头状癌并采用甲状腺全切以及颈中央区淋巴结清扫手术患者134例为研究对象。统计患者术后甲状旁腺功能减退发生情况;分析影响患者甲状旁腺功能减退的单因素,并采用多元Logistic回归分析影响甲状旁腺功能减退的危险因素,采用Pearson系数分析术后血清MMIF、IL-6、PTH与甲状旁腺功能减退的相关性。结果134例患者术后甲状旁腺功能正常者112例(83.58%)、甲状旁腺功能减退者22例(16.42%);两组年龄、性别、肿瘤直径等指标比较,差异无统计学意义(P>0.05);两组肿瘤位置、中央区淋巴结清扫位置及数量、合并桥本甲状腺炎以及术后血清MMIF、IL-6、PTH水平比较,差异有统计学意义(P<0.05);多元Logistic回归分析显示:肿瘤位于后背膜、合并患有桥本甲状腺炎以及术后血清MMIF≥2 ng/mL、IL-6>10.0 pg/L、PTH≥15 pg/mL是影响甲状旁腺功能减退的危险因素(P<0.05);Pearson相关性分析可知:术后血清MMIF、IL-6、PTH水平与甲状旁腺功能减退呈正相关(P<0.05)。结论临床可通过检测术后血清MMIF水平、IL-6、PTH水平用以预测甲状腺乳头状癌术后甲状旁腺功能是否出现减退,为治疗提供可靠的依据。

甲状腺癌患者术后并发暂时性甲状旁腺功能低下的相关因素分析

目的探讨甲状腺癌患者术后并发暂时性甲状旁腺功能低下(tHPP)的相关因素。方法回顾性分析72例甲状腺癌患者临床资料。所有患者均开展手术治疗,依据术后是否发生tHPP分为tHPP组与非tHPP组。收集2组年龄、性别、体质量指数、肿瘤长径、手术方式、肿瘤侧别、临床分期、淋巴结清扫范围、甲状旁腺误切、术前维生素D水平、纳米炭示踪剂等临床资料,分析患者术后并发tHPP的独立危险因素。结果72例甲状腺癌患者术后18例发生tHPP,发生率为25.00%(18/72)。单因素分析显示,肿瘤长径、手术方式、肿瘤侧别、临床分期、淋巴结清扫范围、甲状旁腺误切、术前维生素D水平、纳米炭示踪剂与患者术后并发tHPP相关(P<0.05);多因素分析显示,肿瘤长径≥4 cm、开放性手术、双侧肿瘤、临床分期Ⅲ~Ⅳ期、淋巴结清扫范围双侧、甲状旁腺误切、术前维生素D水平<26 ng/ml、未使用纳米炭示踪剂为患者术后并发tHPP的独立危险因素(OR>1,P<0.05)。结论肿瘤长径≥4 cm、开放性手术、双侧肿瘤、临床分期Ⅲ~Ⅳ期、淋巴结清扫范围双侧、甲状旁腺误切、术前维生素D水平<26 ng/ml、未使用纳米炭示踪剂为甲状腺癌患者术后并发tHPP的高危因素,临床需尽早识别该类因素,采取针对性预防措施,以减少tHPP的发生。

可逆性特发性甲状旁腺功能减退性心肌病1例并文献复习

报道1例特发性甲状旁腺功能减退性心肌病患者的临床资料,并进行文献复习。

A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome

INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia （HDR） syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding protein 3 （GATA3） gene located on the 10pl 5 chromosome.

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

Background： Hypoparathyroidism-deafness-renal dysplasia （HDR） syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 （GATA3） gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese t;amily with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. Methods： Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was pertbrmed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial H DR syndrome cases analyzed were provided. Results： In Chinese family 712 l, a heterozygous nonsense mutation c.826C〉T （p.R276＊） was identified in GA TA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases （30%） and two thirds of them were found to carry premature stop mutations. Conclusions： This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.

Successful xenotransplantation of microencapsulated newborn pig parathyroid cells in the treatment of hypoparathyroidism in rats

Objective To study the effect of xenotransplantation with pig parathyroid cells,which was prepared using cell microencapsulation technique,on the treatment of hypoparathyroidism in rats without immunosuppressor. Methods Parathyroid cells were isolated from 10 healthy newborn pigs and encapsulated in alginate-polylysine-alginate (APA) membranes. Thirty-two aparathyroid Wistar rats were randomly allocated to microcapsule,non-microcapsule,empty microcapsule,and control groups. Each rat was injected intraperitoneally with encapsulated porcine parathyroid cells,free porcine parathyroid cells,empty capsules or 0.9% NaCl,respectively. Total serum calcium and parathyroid hormone levels were monitored continuously for 40 weeks. And then,the transplant beds were retrieved and subjected to morphologic and electron microscopic examination. Results In those animals xenotransplanted with microencapsulated porcine parathyroid cells,the calcium and PTH levels were consistently within the normal range during the 40 weeks. In contrast,no therapeutic effects were observed in rats in the non-microcapsule group. Furthermore,neither empty capsules nor 0.9% NaCl were shown to have any effect on the recipient’s serum calcium or PTH levels. After 40 weeks,electron microscopic examination demonstrated that the parathyroid cells within the microcapsules had survived well in vivo . Conclusions Xenotransplantation of microencapsulated newborn pig parathyroid cells can successfully treat hypoparathyroidism in rats without using immunosuppressive drugs. The results of this study show the possible clinical use of microencapsulated porcine parathyroid cells.

甲状旁腺功能减退症-妊娠哺乳期-血钙波动

本文报告一例甲状旁腺功能减退症病例,患者平素病情稳定,妊娠哺乳期血钙出现较大波动。妊娠期血钙下降、尿钙排泄增加,需增加药量。哺乳期血钙增加,出现高钙血症,需停用活性维生素D;至哺乳17个月时药物剂量仍低于孕前水平。本文对妊娠哺乳期母体钙稳态的生理变化进行总结,并对甲状旁腺功能减退症患者妊娠哺乳期的钙稳态变化及相关机制进行文献复习。

前臂皮下与肱桡肌甲状旁腺自体移植对预防甲状腺术后甲状旁腺功能减退症的疗效比较

目的 比较前臂皮下与肱桡肌自体甲状旁腺移植术(parathyroid autotransplantation,PA)对预防甲状腺术后甲状旁腺功能减退症(hypoparathyroidism,HypoPT)的疗效及安全性。方法 选取2022年5月至2023年8月于抚顺市中心医院首次行甲状腺手术联合前臂PA的99例患者,根据患者治疗意愿将其分为暴露组(前臂皮下PA,49例)和对照组(肱桡肌PA,50例)。比较两组患者的一般临床资料和术后相关指标的差异,多因素Logistic回归分析患者术后1个月移植物存活的影响因素。结果 术后1d、术后3d,暴露组患者的血钙水平均显著高于对照组(P<0.05);术后1个月,暴露组患者的前臂移植物存活率显著高于对照组(P=0.029);暴露组患者的术后口周、指间麻木、局部淤血发生率均显著低于对照组(P<0.05);两组患者术后暂时性HypoPT发生情况比较差异无统计学意义(P>0.05)。多因素Logistic回归分析显示性别、种植部位均是术后1个月前臂移植物存活的影响因素(P<0.05)。结论 前臂皮下PA预防甲状腺术后HypoPT效果确切,是一种安全、简单且有效的治疗方式,值得临床推广应用。

以癫痫发作为首发表现的甲状旁腺功能减退症患者1例报道并文献复习

甲状旁腺功能减退症(HP)是指甲状旁腺激素(PTH)分泌过少和/或效应不足而引起低钙血症、高磷血症、软组织异位钙化和神经肌肉兴奋性增高等为临床特征的一组临床综合征。近期我院收治了1例以反复癫痫发作为表现的HP患者,该患者10余年前反复出现发作性意识丧失、双眼凝视、牙关紧闭、四肢抽搐,每次发作持续约数分钟,上述症状可自行好转,醒后不能回忆发病过程,就诊于外院,诊断为癫痫予以规律抗癫痫药物治疗,治疗期间上述症状仍反复发作,起初发病频率低,约每年发作1次,近2年来发作频率增加,平均2~3月发作1次。入院前3 d因受凉后再次出现意识丧失、双眼凝视、牙关紧闭、四肢抽搐,发作1次,持续约10余分钟后自行苏醒,醒后出现头晕、肢体乏力,伴精神差、纳差,有咳嗽、咳痰等临床表现,就诊于我科。现对这一病例的发病情况、诊疗经过进行总结,并复习相关文献,以期加深临床医师对HP相关癫痫的认识。

Liver transplantation for hypoparathyroidism secondary to Wilson's disease

To the Editor: A 19-year-old man was admitted to the hospital presenting with “skin and sclera yellow staining for 18 years, accompanied by growth retardation.” The patient developed scleral yellowing at 4 months of age, at which time he was diagnosed as having Wilson's disease (WD) and received symptomatic treatment for liver protection. At 9 years of age the patient developed a pale nail bed, clubbing of the fingers and toes, and accompanying growth retardation. A spontaneous fracture of the right upper limb and left pubic bone occurred at 16 years of age. At 17 years of age the patient developed neuropsychiatric symptoms consisting of fatigue, personality changes, mental retardation, numbness, epileptic seizures, and constipation. He required daily glycerin to assist with defecation. At 5 months prior to admission, obvious sternal malformations and anterior sternal processes were present. Family history revealed that his parents were close relatives (cousin-sister relationship) and the patient's cousin died as a result of WD at age of 12 years. The patient's younger brother was 3 years old and also had a history of WD.

Hypoparathyroidism presenting with late onset seizures - a report of two cases from rural India

Hypoparathyroidism leading to hypocalcaemia is an important treatable cause of recurrent seizures. Neurological manifestations due to hypoparathyroidism include: seizures, paresthesia, depression, psychosis, extra pyramidal symptoms, and features of raised intracranial pressure. Seizures may be the presenting symptoms preceding other signs of hypocalcaemia. Primary hypoparathyroidism presenting for the first time as seizures in the elderly is quite rare. Here we report two cases of hypoparathyroidism presenting with seizures in the elderly as the sole manifestation of hypocalcaemia. The goal of this report is to seek attention to such an uncommon reversible treatable cause of seizures and to consider hypoparathyroidism in the work up of these patients.

A genomic study of adult-onset idiopathic hypoparathyroidism in Chinese by targeted next-generation sequencing

Objective To screen gene mutation in adult-onset hypoparathyroidism in Chinese through the targeted nextgeneration sequencing(NGS).Methods We recruited 17patients with adult-onset hypoparathyroidism who were regularly followed or newly diagnosed at our centre during the past one year.Nine of them developed hypercalciuria during the treatment with calcium and vitamin D.

甲状腺乳头状癌患者术后血清MMIF和IL-6表达水平与甲状旁腺功能减退持续时间的相关性研究

目的探究甲状腺乳头状癌患者术后血清巨噬细胞移动抑制因子(macrophage movement inhibitory factor,MMIF)和白细胞介素(interleukin,IL)-6表达水平与甲状旁腺功能减退持续时间的关系。方法选取北京市平谷区医院2020年5月~2022年2月133例甲状腺乳头状癌术后甲状旁腺功能减退患者,根据甲状旁腺功能减退持续时间的中位数将其分为长时组(>8周,n=65)和短时组(≤8周,n=68)。酶联免疫吸附法检测血清MMIF和IL-6水平,并分析二者与甲状旁腺功能减退持续时间的关系。结果长时组和短时组的年龄、女性占比、体质量指数、肿瘤直径、双侧中央区淋巴结清扫占比、术后引流量、包膜侵犯占比、甲状旁腺意外切除占比、术前血钙和甲状旁腺激素、术后第1天的肿瘤坏死因子-α水平,差异均无统计学意义(t/χ^(2)/Z=0.123~1.401,均P>0.05)。与短时组相比,长时组的手术时间[114(102,139)min vs 101(95,114)min]、术后第1天的MMIF(2.38±0.26 ng/ml vs 2.09±0.19ng/ml)和IL-6水平[14.10(12.47,15.13)ng/L vs 12.42(11.61,13.38)ng/L]均升高,差异具有统计学意义(Z/t=3.419~7.185,均P<0.05)。Pearson分析结果显示log10(甲状旁腺功能减退持续时间)与MMIF呈正相关关系(r=0.397,P=0.000)。Spearman分析结果显示甲状旁腺功能减退持续时间与手术时间和IL-6均呈正相关关系(rs=0.363,P=0.000;rs=0.281,P=0.001)。线性回归分析结果显示手术时间(t=2.734,P=0.007)、MMIF(t=4.265,P=0.000)和IL-6(t=3.006,P=0.003)均与甲状旁腺功能减退持续时间独立相关。结论MMIF和IL-6与甲状旁腺功能减退持续时间呈正相关关系,二者水平高提示患者甲状旁腺功能减退持续时间长。

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

目的 探讨以癫痫样发作为主要表现的甲状旁腺功能减退症(HP)患者的临床特征,以提高对甲状旁腺功能障碍疾病的认识。方法 对本院2016年8月至2020年6月诊断为“癫痫”的6例HP患者的临床资料进行分析和文献回顾。结果 6例均有癫痫样发作,其中1例以手足搐搦起病,另5例以癫痫样发作为首发症状,平均延迟诊断时间长达8年;癫痫样发作可表现为伴有意识改变的局灶性进展为双侧强直-阵挛发作、意识清楚的阵挛发作、意识清楚的强直发作以及未知起源的强直阵挛发作等多种发作类型,EEG、头颅CT均有较特异的改变。1例患者为明确GNAS基因新生错义突变(c. 692G> A/p. R231H)所致假性甲状旁腺功能减退症(PHP)伴有Albright遗传性骨营养不良症(AHO)畸形,并在明确病因诊断前行颈椎间盘减压手术治疗。1例初诊即明确HP诊断,仅予补钙、补充维生素D治疗后未再出现癫痫样发作;其余4例明确病因诊断后积极予补钙、补充维生素D治疗后几乎均未再出现癫痫样发作,1例患者伴有精神发育迟滞,1例患者留有精神障碍。结论 HP早期有效治疗可预防癫痫样发作的发生,减少患者并发症的发生。