Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

被引：28

作者：

Charoenngam, Nipith ^{[1
,2
,3
]}

Nasr, Aryan ^{[1
]}

Shirvani, Arash ^{[1
]}

Holick, Michael F. ^{[1
]}

机构：

[1] Boston Univ, Dept Med, Sect Endocrinol Nutr & Weight Management, Sch Med, Boston, MA 02118 USA

[2] Harvard Med Sch, Mt Auburn Hosp, Dept Med, Cambridge, MA 02138 USA

[3] Mahidol Univ, Fac Med, Dept Med, Siriraj Hosp, Bangkok 10700, Thailand

来源：

GENES | 2022年 / 13卷 / 10期

关键词：

metabolic bone disease; sclerosing disorders; osteopetrosis; hypophosphatemic rickets; vitamin D-dependent rickets; hypophosphatasia; achondroplasia; osteogenesis imperfecta; hereditary connective tissue disorder; CAMURATI-ENGELMANN-DISEASE; EHLERS-DANLOS-SYNDROME; PRIMARY HYPERTROPHIC OSTEOARTHROPATHY; OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; ENZYME-REPLACEMENT THERAPY; PAGETS-DISEASE; OSTEOGENESIS IMPERFECTA; OSTEOPATHIA STRIATA; CRANIAL SCLEROSIS; MINERAL DENSITY;

D O I：

10.3390/genes13101880

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases.

引用

页数：34

共 212 条

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