fgf23介导的低磷血症佝偻病：表型、基因型和与非fgf23介导形式的比较

IF 1.5 4区医学 Q2 PEDIATRICS Indian pediatrics Pub Date : 2025-03-01 Epub Date: 2025-03-07 DOI:10.1007/s13312-025-00024-6

Manjiri Pramod Karlekar, Manjunath Havalappa Dodamani, Anurag Lila, Saba Samad Memon, Anima Sharma, Vijaya Sarathi, Samiksha Hegishte, Rohit Barnabas, Nalini Shah, Tushar Bandgar

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引用次数: 0

摘要

目的比较遗传性FGF23介导的低磷血症佝偻病（FGF23-M-HR）和非FGF23介导的低磷血症佝偻病（非FGF23-M-HR）的表型、生化和基因型特征：方法：比较印度西部一个中心经基因证实的FGF23-M-HR和非FGF23-M-HR病例的临床、生化和放射学数据：结果：共纳入13例FGF23-M-HR患者（6例家族性，11例女性），中位（IQR）发病年龄为2.0（1.25，26）岁，确诊年龄为10（3，30）岁。除一人外，所有患者均表现为佝偻病和身材矮小。其中有12例（7例为新型）独特的PHEX突变和1例同源的新型DMP1突变。FGF23-M-HR的副激素水平明显更高（81.9 pg/mL对25.1 pg/mL），1,25 (OH)2 D水平更低（54.9 ng/mL对103 ng/mL），尿钙/肌酐比值更低（0.006 ng/mL对0.38 ng/mL）。副激素>65.3 pg/mL对诊断FGF23-M-HR具有100%的特异性：结论：副激素、尿钙/肌酐比值和 1,25 (OH)2 D 水平可区分 FGF23-M-HR 和非 FGF23-M-HR。

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FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms.

Objective: To compare the phenotypic, biochemical, and genotypic characteristics of hereditary FGF23-mediated hypophosphatemic rickets (FGF23-M-HR) and non-FGF23-mediated hypophosphatemic rickets (non-FGF23-M-HR).

Methods: Clinical, biochemical, and radiological data of genetically proven FGF23-M-HR and non-FGF23-M-HR cases from a single center in western India were compared.

Results: Thirteen probands (6 familial; 11 females) with FGF23-M-HR with median (IQR) age of symptom onset 2.0 (1.25, 26) years and age at diagnosis 10 (3, 30) years, were included. All, but one, presented with rickets and short stature. There were 12 (7 novel) unique PHEX mutations and one homozygous novel DMP1 mutation. FGF23-M-HR had significantly higher parathormone levels (81.9 vs. 25.1 pg/mL), lower 1,25 (OH)₂ D (54.9 vs. 103 ng/mL), and lower urinary calcium/creatinine ratio (0.006 vs. 0.38). Parathormone > 65.3 pg/mL has 100% specificity for diagnosing FGF23-M-HR.

Conclusion: Parathormone, urinary calcium/creatinine ratio, and 1,25 (OH)₂ D levels can differentiate FGF23-M-HR from non-FGF23-M-HR.

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来源期刊

Indian pediatrics 医学-小儿科

CiteScore

3.30

自引率

8.70%

发文量

344

审稿时长

3-8 weeks

期刊介绍： The general objective of Indian Pediatrics is "To promote the science and practice of Pediatrics." An important guiding principle has been the simultaneous need to inform, educate and entertain the target audience. The specific key objectives are: -To publish original, relevant, well researched peer reviewed articles on issues related to child health. -To provide continuing education to support informed clinical decisions and research. -To foster responsible and balanced debate on controversial issues that affect child health, including non-clinical areas such as medical education, ethics, law, environment and economics. -To achieve the highest level of ethical medical journalism and to produce a publication that is timely, credible and enjoyable to read.