BACKGROUND Refractory secondary hyperparathyroidism(SHPT)is a common complication observed in patients with end-stage renal disease and can result in ectopic calcification.Metastatic calcification involving the heart ...BACKGROUND Refractory secondary hyperparathyroidism(SHPT)is a common complication observed in patients with end-stage renal disease and can result in ectopic calcification.Metastatic calcification involving the heart valves and the conduction system can easily lead to arrhythmias,including atrioventricular block.This case report describes a maintenance hemodialysis patient with refractory SHPT resulting in a complete atrioventricular block(CAVB),which was eventually reversed to a first-degree atrioventricular block.CASE SUMMARY We present the case of a 31-year-old Asian female who was receiving maintenance hemodialysis because of lupus nephropathy.She developed SHPT,and an electrocardiogram revealed a first-degree atrioventricular block.Then,she underwent parathyroidectomy(PTX)with autotransplantation.Unfortunately,a few years later,she developed SHPT again,and an electrocardiogram revealed a CAVB.A few years after the second PTX surgery,the calcification of the left atrium and left ventricle improved,and her CAVB was reversed.CONCLUSION This case revealed that metastatic cardiac calcification can result in complete atrioventricular blockage.Following parathyroid surgery,calcification of the cardiac conduction system improved,leading to reversal of the atrioventricular block.It is important for dialysis patients to optimize intact parathyroid hormone therapy and pay attention to calcification metastasis.展开更多
Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mort...Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes. These disorders are classified based on the mechanisms through which the mineralization occurs: metastatic or dystrophic calcification or ectopic ossification. Underlying mechanisms have been extensively studied, which resulted in several hypotheses regarding the etiology of mineralization in the extracellular matrix of soft tissue. These hypotheses include intracellular and extracellular mechanisms, such as the formation of matrix vesicles, aberrant osteogenic and chondrogenic signaling, apoptosis and oxidative stress. Though coherence between the different findings is not always clear, current insights have led to improvement of the diagnosis and management of ectopic mineralization patients, thus translating pathogenetic knowledge(variome) to the phenotype(phenome). In this review, we will focus on the clinical presentation, pathogenesis and management of primary genetic soft tissue mineralization disorders. As examples of dystrophic calcification disorders Pseudoxanthoma elasticum, Generalized arterial calcification of infancy, Keutel syndrome, Idiopathic basal ganglia calcification and Arterial calcification due to CD73(NT5E) deficiency will be discussed. Hyperphosphatemic familial tumoral calcinosis will be reviewed as an example of mineralization disorders caused by metastatic calcification.展开更多
基金Supported by Weifang Health and Family Planning Commission Research Project,No.WFWSJK-2021-212.
文摘BACKGROUND Refractory secondary hyperparathyroidism(SHPT)is a common complication observed in patients with end-stage renal disease and can result in ectopic calcification.Metastatic calcification involving the heart valves and the conduction system can easily lead to arrhythmias,including atrioventricular block.This case report describes a maintenance hemodialysis patient with refractory SHPT resulting in a complete atrioventricular block(CAVB),which was eventually reversed to a first-degree atrioventricular block.CASE SUMMARY We present the case of a 31-year-old Asian female who was receiving maintenance hemodialysis because of lupus nephropathy.She developed SHPT,and an electrocardiogram revealed a first-degree atrioventricular block.Then,she underwent parathyroidectomy(PTX)with autotransplantation.Unfortunately,a few years later,she developed SHPT again,and an electrocardiogram revealed a CAVB.A few years after the second PTX surgery,the calcification of the left atrium and left ventricle improved,and her CAVB was reversed.CONCLUSION This case revealed that metastatic cardiac calcification can result in complete atrioventricular blockage.Following parathyroid surgery,calcification of the cardiac conduction system improved,leading to reversal of the atrioventricular block.It is important for dialysis patients to optimize intact parathyroid hormone therapy and pay attention to calcification metastasis.
基金Supported by The Research Foundation Flanders(FWO)(FWO14/ASP/084),Vanakker OM is a senior clinical investigator at the Fund for Scientific Research-FlandersContract grant sponsor:FWO grant No G.0241.11NMethusalem grant No.08/01M01108
文摘Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes. These disorders are classified based on the mechanisms through which the mineralization occurs: metastatic or dystrophic calcification or ectopic ossification. Underlying mechanisms have been extensively studied, which resulted in several hypotheses regarding the etiology of mineralization in the extracellular matrix of soft tissue. These hypotheses include intracellular and extracellular mechanisms, such as the formation of matrix vesicles, aberrant osteogenic and chondrogenic signaling, apoptosis and oxidative stress. Though coherence between the different findings is not always clear, current insights have led to improvement of the diagnosis and management of ectopic mineralization patients, thus translating pathogenetic knowledge(variome) to the phenotype(phenome). In this review, we will focus on the clinical presentation, pathogenesis and management of primary genetic soft tissue mineralization disorders. As examples of dystrophic calcification disorders Pseudoxanthoma elasticum, Generalized arterial calcification of infancy, Keutel syndrome, Idiopathic basal ganglia calcification and Arterial calcification due to CD73(NT5E) deficiency will be discussed. Hyperphosphatemic familial tumoral calcinosis will be reviewed as an example of mineralization disorders caused by metastatic calcification.
