n.磷酸酶过少；低磷酸脂酶症

Hypophosphatasia is a rare genetic disorder characterized by low levels of phosphate in blood and bones.
佝偻病是一种罕见的遗传病，特征是血液和骨骼中的磷含量过低。
The patient was diagnosed with severe hypophosphatasia, leading to bone weakness and deformities.
患者被诊断为严重的佝偻病，导致骨骼脆弱和畸形。
Early diagnosis and treatment of hypophosphatasia can prevent skeletal abnormalities.
早期诊断和治疗佝偻病可以防止骨骼异常发展。
The disease is caused by mutations in the phosphatase gene, leading to impaired bone metabolism.
该病由磷酸酶基因突变引起，影响骨代谢。
Infants with hypophosphatasia often show delayed milestones and growth due to poor bone development.
患佝偻病的婴儿常因骨骼发育不良而出现发育迟缓和生长问题。
The doctor prescribed supplements rich in vitamin D and calcium for the child with hypophosphatasia.
医生为佝偻病儿童开了富含维生素D和钙的补充剂。
Hypophosphatasia can be asymptomatic in some cases, but early signs may include bone pain or fractures.
在某些情况下，佝偻病可能无症状，但早期可能表现为骨痛或骨折。
Genetic counseling is crucial for families with a history of hypophosphatasia to understand the risks and options for management.
对于有佝偻病遗传史的家庭，遗传咨询至关重要，以了解风险并制定管理策略。
Treatment often involves regular intravenous phosphorus replacement and physical therapy to strengthen bones.
治疗通常包括定期静脉补磷和物理疗法来强化骨骼。
Research is ongoing to develop new therapies to cure or manage hypophosphatasia in the future.
目前的研究正在致力于开发新的治疗方法，以期在未来治愈或控制佝偻病。