Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.

IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-04-11 Print Date: 2024-04-01 DOI:10.1530/EDM-23-0098
Fahad Al-Juraibah, Adnan Al Shaikh, Afaf Al-Sagheir, Amir Babiker, Asma Al Nuaimi, Ayed Al Enezi, George S Mikhail, Hassan A Mundi, Hubert K Penninckx, Huda Mustafa, Majid Al Ameri, Mohamed Al-Dubayee, Nadia S Ali, Nagla Fawzy, Sameer Al Shammari, Tarek Fiad
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Abstract

Summary: 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.

Learning points: 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.

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海湾合作委员会国家 X 连锁低磷血症佝偻病的经验:病例系列。
摘要:X-连锁性低磷血症佝偻病(XLH)是遗传性低磷血症佝偻病中最常见的一种,是由编码磷酸调节内肽酶同源物 X-连锁(PHEX)基因的功能缺失突变引起的。本病例系列介绍了来自海湾合作委员会(GCC)国家的14例XLH患者。文中描述了患者的病史、生化和放射学检查结果,以及传统疗法和布罗苏单抗疗法的治疗反应和副作用。病例确诊时的年龄为 2-40 岁。其中男性 2 例,女性 12 例。所有病例均接受了常规治疗,但佝偻病的临床症状和体征或生化指标均无改善或恶化。常规疗法的副作用包括恶心、腹泻、腹痛、肾钙化和甲状旁腺功能亢进,影响了患者的生活质量和治疗的依从性。与基线相比,接受布罗苏单抗治疗的10名患者的佝偻病生化指标明显改善,12个月时血清磷酸盐平均增加+0.56毫摩尔/升,肾小管最大磷酸盐重吸收量(TmP)与肾小球滤过率(GFR)的比值(TmP/GFR)为+0.39毫摩尔/升。此外,与基线值相比,这些患者的血清碱性磷酸酶(ALP)和甲状旁腺激素(PTH)的平均降幅分别为-80.80 IU/L和-63.61 pmol/L。此外,接受布罗苏单抗治疗的患者表示疼痛、肌无力和疲劳感减轻,并能更积极地参加体育锻炼,且治疗无明显副作用:学习要点:传统疗法的疗效不理想,临床症状和体征缺乏改善。传统疗法的副作用包括恶心、腹泻、腹痛、肾钙化和甲状旁腺功能亢进,影响了患者的生活质量和治疗依从性。布罗苏单抗明显改善了佝偻病的生化指标,还减轻了疼痛、肌无力和疲劳。布罗苏单抗治疗没有明显的副作用。
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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
142
审稿时长
9 weeks
期刊介绍: Endocrinology, Diabetes & Metabolism Case Reports publishes case reports on common and rare conditions in all areas of clinical endocrinology, diabetes and metabolism. Articles should include clear learning points which readers can use to inform medical education or clinical practice. The types of cases of interest to Endocrinology, Diabetes & Metabolism Case Reports include: -Insight into disease pathogenesis or mechanism of therapy - Novel diagnostic procedure - Novel treatment - Unique/unexpected symptoms or presentations of a disease - New disease or syndrome: presentations/diagnosis/management - Unusual effects of medical treatment - Error in diagnosis/pitfalls and caveats
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