Al-Juraibah Fahad, Al Shaikh Adnan, Al-Sagheir Afaf, Babiker Amir, Al Nuaimi Asma, Al Enezi Ayed, Mikhail George S, Mundi Hassan A, Penninckx Hubert K, Mustafa Huda, Al Ameri Majid, Al-Dubayee Mohamed, Ali Nadia S, Fawzy Nagla, Al Shammari Sameer, Fiad Tarek
College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.
Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Endocrinol Diabetes Metab Case Rep. 2024 Apr 11;2024(2). doi: 10.1530/EDM-23-0098. Print 2024 Apr 1.
X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients' medical history, biochemical and radiological investigative findings, as well as treatment responses and side effects from both conventional and burosumab therapy, are described. Cases were aged 2-40 years at diagnosis. There were two male cases and 12 female cases. All cases were treated with conventional therapy which resulted in a lack of improvement in or worsening of the clinical signs and symptoms of rickets or biochemical parameters. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. In the 10 patients treated with burosumab, there was a marked improvement in the biochemical markers of rickets, with a mean increase in serum phosphate of +0.56 mmol/L and tubular maximum phosphate reabsorption (TmP) to glomerular filtration rate (GFR) ratio (TmP/GFR) of +0.39 mmol/L at 12 months compared to baseline. Furthermore, a mean decrease in serum alkaline phosphatase (ALP) of -80.80 IU/L and parathyroid hormone (PTH) of -63.61 pmol/L at 12 months compared to baseline was observed in these patients. Additionally, patients treated with burosumab reported reduced pain, muscle weakness, and fatigue as well as the ability to lead more physically active lives with no significant side effects of treatment.
Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue. There were no significant side effects associated with burosumab therapy.
X连锁低磷性佝偻病（XLH）是遗传性低磷性佝偻病最常见的形式，由编码X连锁磷酸盐调节内肽酶同源物（PHEX）的基因功能丧失突变引起。本病例系列介绍了来自海湾合作委员会（GCC）国家的14例XLH病例。描述了患者的病史、生化和放射学检查结果，以及传统治疗和布罗索尤单抗治疗的反应及副作用。病例诊断时年龄为2至40岁。其中男性2例，女性12例。所有病例均接受传统治疗，但佝偻病的临床体征和症状或生化指标未得到改善或恶化。传统治疗的副作用包括恶心、腹泻、腹痛、肾钙质沉着症和甲状旁腺功能亢进，这些影响了患者的生活质量和治疗依从性。在接受布罗索尤单抗治疗的10例患者中，佝偻病的生化指标有显著改善，与基线相比，12个月时血清磷酸盐平均升高+0.56 mmol/L，肾小管最大磷酸盐重吸收（TmP）与肾小球滤过率（GFR）之比（TmP/GFR）平均升高+0.39 mmol/L。此外，这些患者在12个月时与基线相比，血清碱性磷酸酶（ALP）平均降低-80.80 IU/L，甲状旁腺激素（PTH）平均降低-63.61 pmol/L。此外，接受布罗索尤单抗治疗的患者报告疼痛、肌肉无力和疲劳减轻，并且能够过上更积极的身体活动生活，且治疗无明显副作用。
传统治疗效果欠佳，临床体征和症状未得到改善。传统治疗的副作用包括恶心、腹泻、腹痛、肾钙质沉着症和甲状旁腺功能亢进，这些影响了患者的生活质量和治疗依从性。布罗索尤单抗除了减轻疼痛、肌肉无力和疲劳外，还使佝偻病的生化指标有显著改善。布罗索尤单抗治疗无明显副作用。
