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 manifestati...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.展开更多
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...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.展开更多
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 hy...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.展开更多
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,vita...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展开更多
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...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.展开更多
Hypoparathyroidism leading to hypocalcaemia is an important treatable cause of recurrent seizures. Neurological manifestations due to hypoparathyroidism include: seizures, paresthesia, depression, psychosis, extra pyr...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.展开更多
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...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.展开更多
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...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。展开更多
BACKGROUND Hypoparathyroidism,which can be sporadic or a component of an inherited syndrome,is the most common cause of hypocalcemia.If hypocalcemia is accompanied by other electrolyte disturbances,such as hypokalemia...BACKGROUND Hypoparathyroidism,which can be sporadic or a component of an inherited syndrome,is the most common cause of hypocalcemia.If hypocalcemia is accompanied by other electrolyte disturbances,such as hypokalemia and hypomagnesemia,then the cause,such as renal tubular disease,should be carefully identified.CASE SUMMARY An 18-year-old female visited our clinic because of short stature and facial deformities,including typical phenotypes,such as low ear position,depression of the nasal bridge,small hands and feet,and loss of dentition.The lab results suggested normal parathyroid hormone but hypocalcemia.In addition,multiple electrolyte disturbances were found,including hypokalemia,hypocalcemia and hypomagnesemia.The physical signs showed a short fourth metatarsal bone of both feet.The X-ray images showed cortical thickening of long bones and narrowing of the medulla of the lumen.Cranial computed tomography indicated calcification in the bilateral basal ganglia.Finally,the genetic investigation showed a de novo heterogenous mutation of“FAM111A”(c.G1706A:p.R569H).Through a review of previously reported cases,the mutation was found to be the most common mutation site in Kenny-Caffey syndrome type 2(KCS2)cases reported thus far(16/23,69.6%).The mutation was slightly more prevalent in females than in males(11/16,68.8%).Except for hypocalcemia,other clinical manifestations are heterogeneous.CONCLUSION As a rare autosomal dominant genetic disease of hypoparathyroidism,the clinical manifestations of KCS2 are atypical and diverse.This girl presented with short stature,facial deformities and skeletal deformities.The laboratory results revealed hypocalcemia as the main electrolyte disturbance.Even though her family members showed normal phenotypes,gene detection was performed to find the mutation of the FAM111A gene and confirmed the diagnosis of KCS2.展开更多
基金Supported by Endocrine Clinical Medical Center of Yunnan Province,No.ZX2019-02-02Endocrine Clinical Medical Center of Yunnan Province,No.ZX2019-02-02+5 种基金Natural Science Foundation of China(No.81760734No.31660313)Natural Science Foundation of Yunnan Province(No.2017FA048No.2017FE467)the fund of Diabetic Innovation Team(No.2019HC002)the fund of medical leader in Yunnan Province(No.L-201609)
文摘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.
文摘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.
文摘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.
文摘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
文摘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.
文摘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.
文摘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.
文摘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。
基金Supported by National Natural Science Foundation of China,No.82070817.
文摘BACKGROUND Hypoparathyroidism,which can be sporadic or a component of an inherited syndrome,is the most common cause of hypocalcemia.If hypocalcemia is accompanied by other electrolyte disturbances,such as hypokalemia and hypomagnesemia,then the cause,such as renal tubular disease,should be carefully identified.CASE SUMMARY An 18-year-old female visited our clinic because of short stature and facial deformities,including typical phenotypes,such as low ear position,depression of the nasal bridge,small hands and feet,and loss of dentition.The lab results suggested normal parathyroid hormone but hypocalcemia.In addition,multiple electrolyte disturbances were found,including hypokalemia,hypocalcemia and hypomagnesemia.The physical signs showed a short fourth metatarsal bone of both feet.The X-ray images showed cortical thickening of long bones and narrowing of the medulla of the lumen.Cranial computed tomography indicated calcification in the bilateral basal ganglia.Finally,the genetic investigation showed a de novo heterogenous mutation of“FAM111A”(c.G1706A:p.R569H).Through a review of previously reported cases,the mutation was found to be the most common mutation site in Kenny-Caffey syndrome type 2(KCS2)cases reported thus far(16/23,69.6%).The mutation was slightly more prevalent in females than in males(11/16,68.8%).Except for hypocalcemia,other clinical manifestations are heterogeneous.CONCLUSION As a rare autosomal dominant genetic disease of hypoparathyroidism,the clinical manifestations of KCS2 are atypical and diverse.This girl presented with short stature,facial deformities and skeletal deformities.The laboratory results revealed hypocalcemia as the main electrolyte disturbance.Even though her family members showed normal phenotypes,gene detection was performed to find the mutation of the FAM111A gene and confirmed the diagnosis of KCS2.
