A decade ago, only two hormones, parathyroid hormone and 1,25（OH）2D, were widely recognized to direct-ly affect phosphate homeostasis. Since the discovery of fibroblast growth factor 23 （FGF23） in 2000 （1）, our ...A decade ago, only two hormones, parathyroid hormone and 1,25（OH）2D, were widely recognized to direct-ly affect phosphate homeostasis. Since the discovery of fibroblast growth factor 23 （FGF23） in 2000 （1）, our understanding of the mechanisms of phosphate homeostasis and of bone mineralization has grown exponentially. FGF23 is the link between intestine, bone, and kidney together in phosphate regulation. However, we still do not know the complex mechanism of phosphate homeostasis and bone mineralization. The physiological role of FGF23 is to regulate serum phosphate. Secreted mainly by osteocytes and osteo- blasts in the skeleton （2-3）, it modulates kidney handling of phosphate reabsorption and calcitriol produc-tion. Genetic and acquired abnormalities in FGF23 structure and metabolism cause conditions of either hyper-FGF23 or hypo-FGF23. Hyper-FGF23 is related to hypophosphatemia, while hypo-FGF23 is related to hyperphosphatemia. Both hyper-FGF23 and hypo-FGF23 are detrimentalto humans. In this review, we will discuss the vathovhvsiology of FGF23 and hvver-FGF23 related renal vhosvhate wasting disorders （4）.展开更多
McCune Albright syndrome is a rare genetic disorder which is characterized by café au lait skin pigmentation, precocious puberty and polyostotic fibrous dysplasia. Treating recurring pathological fractures due to...McCune Albright syndrome is a rare genetic disorder which is characterized by café au lait skin pigmentation, precocious puberty and polyostotic fibrous dysplasia. Treating recurring pathological fractures due to Albright syndrome is a very challenging endeavor, and more so when it is accompanied by poor bone quality and deformity. We hereby present the case of a 23-year-old male patient who is treated several times for recurrent pathological fractures of the femur at our center. We analyze the difficulties associated with treating a patient with poor bone quality over several years, discuss our treatment options, review the literature for similar cases and look at what we could have done differently. We weigh in on the difficulties in treating a severely deformed shepherd’s crook, the ways of achieving proper internal fixation and the dangers of using plating instead of an IM nail as suggested in the literature. Our main goal in reporting this case is to bring forth the unusual challenges encountered when treating patients with Albright syndrome and discussing the options of the orthopedic surgeons when treating these types of patients.展开更多
McCune-Albright综合征（MAS）又称为多发性骨纤维发育不良伴性早熟综合征，是由Donovan James McCune和Fuller Albright于1936年和1937年首先报道的，临床以多发性骨纤维结构不良、皮肤牛奶咖啡斑、性早熟三联征为特征。除性早熟外， ...McCune-Albright综合征（MAS）又称为多发性骨纤维发育不良伴性早熟综合征，是由Donovan James McCune和Fuller Albright于1936年和1937年首先报道的，临床以多发性骨纤维结构不良、皮肤牛奶咖啡斑、性早熟三联征为特征。除性早熟外， MAS还可有各种内分泌功能亢进的表现，包括甲状腺功能亢进、甲状旁腺功能亢进、生长激素过多、高催乳素血症、皮质醇增多症等。此病临床表现多种多样，可有典型的三联征，也可只有2种表现，甚至会表现为孤立的病变，容易造成漏诊、误诊。本文就我科2004年3月至2013年3月收治的30例临床诊断为MAS的病例进行分析。展开更多
基金supported by the National Natural Science Foundation of China (No.81070687 and 8117-0805)National Science and Technology Major Projects for"Major New Drugs Innovation and Development"(Grant No.2008ZX09312-016)Beijing Natural Science Foundation(No.7121012)
文摘A decade ago, only two hormones, parathyroid hormone and 1,25（OH）2D, were widely recognized to direct-ly affect phosphate homeostasis. Since the discovery of fibroblast growth factor 23 （FGF23） in 2000 （1）, our understanding of the mechanisms of phosphate homeostasis and of bone mineralization has grown exponentially. FGF23 is the link between intestine, bone, and kidney together in phosphate regulation. However, we still do not know the complex mechanism of phosphate homeostasis and bone mineralization. The physiological role of FGF23 is to regulate serum phosphate. Secreted mainly by osteocytes and osteo- blasts in the skeleton （2-3）, it modulates kidney handling of phosphate reabsorption and calcitriol produc-tion. Genetic and acquired abnormalities in FGF23 structure and metabolism cause conditions of either hyper-FGF23 or hypo-FGF23. Hyper-FGF23 is related to hypophosphatemia, while hypo-FGF23 is related to hyperphosphatemia. Both hyper-FGF23 and hypo-FGF23 are detrimentalto humans. In this review, we will discuss the vathovhvsiology of FGF23 and hvver-FGF23 related renal vhosvhate wasting disorders （4）.
文摘McCune Albright syndrome is a rare genetic disorder which is characterized by café au lait skin pigmentation, precocious puberty and polyostotic fibrous dysplasia. Treating recurring pathological fractures due to Albright syndrome is a very challenging endeavor, and more so when it is accompanied by poor bone quality and deformity. We hereby present the case of a 23-year-old male patient who is treated several times for recurrent pathological fractures of the femur at our center. We analyze the difficulties associated with treating a patient with poor bone quality over several years, discuss our treatment options, review the literature for similar cases and look at what we could have done differently. We weigh in on the difficulties in treating a severely deformed shepherd’s crook, the ways of achieving proper internal fixation and the dangers of using plating instead of an IM nail as suggested in the literature. Our main goal in reporting this case is to bring forth the unusual challenges encountered when treating patients with Albright syndrome and discussing the options of the orthopedic surgeons when treating these types of patients.
文摘McCune-Albright综合征（MAS）又称为多发性骨纤维发育不良伴性早熟综合征，是由Donovan James McCune和Fuller Albright于1936年和1937年首先报道的，临床以多发性骨纤维结构不良、皮肤牛奶咖啡斑、性早熟三联征为特征。除性早熟外， MAS还可有各种内分泌功能亢进的表现，包括甲状腺功能亢进、甲状旁腺功能亢进、生长激素过多、高催乳素血症、皮质醇增多症等。此病临床表现多种多样，可有典型的三联征，也可只有2种表现，甚至会表现为孤立的病变，容易造成漏诊、误诊。本文就我科2004年3月至2013年3月收治的30例临床诊断为MAS的病例进行分析。
