Causes ; Low Calcium Intake · Eating disorders · Being underweight · Severely restricting food intake · Bone loss due to a drop in your body’s estrogen levels · Family history of osteoporosis
Infantile “malignant” autosomal recessive OP (ARO), Clinical symptoms in infancy, death without HCT usually in the first decade of life, biallelic mutations in ; Intermediate osteopetrosis, Clinical symptoms in the first decade, HCT may be indicated in severe forms with hematological insufficiency and (imminent) visual impairment after individual assessment ; Benign osteopetrosis (ADO), M. Albers Schoenberg (monoallelic CLCN7 mutations): HCT usually not indicated; HCT may be considered after individual assessment in clinical severe cases
Abnormality of metabolism/homeostasis ; Elevated circulating alkaline phosphatase concentration · Hypocalcemia · Increased circulating lactate dehydrogenase concentration
Definition bone density의 확연한 감소 <-- 이는 bone remodeling의 결함에 기인한다. 종류 ① severe infantile form - 열성유전 - 생후 몇 달이 지나면 발견된다. - hematologic and neurologic manifestation을 보인다. - 빈혈이나, 감염으로 인하여 20세 이전에 사망한다. ② adult form - 상대적으로 mild하고 more common - 우성유전을 한다. Clinical and Radiographic Features (1) Infantile Osteopetrosis ① initial signs - normocytic anemia, ...
recessive osteopetrosis is a genetically heterogeneous... of osteopetrosis: the T‐cell immune‐regulator‐1 (TCIRG1)... human osteopetrosis case caused by a mutation in the grey...
They con- firm the presence of an abnormality in the mechanism of bone resorption with little precise definition. Benign Dominant Osteopetrosis A recent review [37] of the more benign...
골석화증, Osteopetrosis(골밀도의증가) 2. 여성의 경우, 폐경 후 여성호르몬의 결핍으로... WHO definition of osteoporosis 3. Ho Yeon Chung, Osteoporosis Diagnosis and Treatment 2007, 대한내분비학회지: 제23...
marble b's osteopetrosis. mastoid bone mastoid part of temporal bone. membrane bone (membranous bone) bone that develops within a connective tissue membrane, in contrast to cartilage bone....
1007/978-3-031-44080-9_91 91Inborn Errors of Metabolism and Osteopetrosis Robert Wynn and Ansgar Schulz 91.1 Inborn Errors of Metabolism 91.1.1 Definition and Epidemiology Inborn errors of...
— Osteopetrosis; — Pyknodysostosis. Autoimmune. Trauma: — Fracture (stress); Endocrine/Metabolic: — Hyperparathyroidism; — Paget's disease. Segen's Medical Dictionary. © 2012...