- 期刊
一位性連遺傳低磷性佝僂症患者之遺傳諮詢過程
A Genetic Consultation for a Patient with X-linked Hypophosphatemic Rickets
摘要
X-linked hypophosphatemic rickets (XLH), also known as Vitamin D-Resistant Rickets (VDRR) or even genetic or familial rickets, is characterized by, among other symptoms, short stature, poorly formed teeth, and bowed legs. In this X-linked dominant disease, abnormal tubular reabsorption of phosphate results from a gene mutation. Phosphate is secreted excessively through the renal proximal tubule, leading to a decrease in serum phosphate concentration. Consequently, Parathyroid hormone stimulates the skeleton to release calcium and phosphate, resulting in skeletal fragility and skeletal malformation. The early diagnosis and treatment of XLH reduces some of the damage in this group of patients and helps improve their quality of life. This case study involves a 41-year-old woman utation involving a C-to-T transversion at base 1699, producing a stop codon at amino acid 567. The data was collected by observation and interview by the author, a counselor at a genetic counseling center. It was found that the patient did not understand her disease condition, the future development of the disease, and direction of therapy. After the diagnosis was made, the author explained the causes of the disease and its progression with the aim of improving the patient's capacity for daily self-care. This study may serve a reference for medical staff members caring for XLH patients.
並列摘要
X-linked hypophosphatemic rickets (XLH), also known as Vitamin D-Resistant Rickets (VDRR) or even genetic or familial rickets, is characterized by, among other symptoms, short stature, poorly formed teeth, and bowed legs. In this X-linked dominant disease, abnormal tubular reabsorption of phosphate results from a gene mutation. Phosphate is secreted excessively through the renal proximal tubule, leading to a decrease in serum phosphate concentration. Consequently, Parathyroid hormone stimulates the skeleton to release calcium and phosphate, resulting in skeletal fragility and skeletal malformation. The early diagnosis and treatment of XLH reduces some of the damage in this group of patients and helps improve their quality of life. This case study involves a 41-year-old woman utation involving a C-to-T transversion at base 1699, producing a stop codon at amino acid 567. The data was collected by observation and interview by the author, a counselor at a genetic counseling center. It was found that the patient did not understand her disease condition, the future development of the disease, and direction of therapy. After the diagnosis was made, the author explained the causes of the disease and its progression with the aim of improving the patient's capacity for daily self-care. This study may serve a reference for medical staff members caring for XLH patients.
延伸閱讀
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