Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature
| Autor: | Mary Scott Ramnitz, A. Berberi, Shoji Ichikawa, Mukbil Hourani, Antoine Abchee, Nabil J. Khoury, Michael T. Collins, Georges Nemer, Nina S. Shabb, Marlene Chakhtoura, G. El Hajj Fuleihan |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Fibroblast growth factor 23 Oncology medicine.medical_specialty Adolescent Endocrinology Diabetes and Metabolism Disease Gene mutation Intestinal absorption 03 medical and health sciences Hyperphosphatemia Bone Density Internal medicine medicine Humans Missense mutation Prospective Studies Retrospective Studies business.industry Genetic disorder Calcinosis medicine.disease Rheumatology Hyperostosis Cortical Congenital Pedigree Fibroblast Growth Factors Radiography Fibroblast Growth Factor-23 030104 developmental biology Echocardiography Mutation Female Tomography X-Ray Computed business |
| Zdroj: | Osteoporosis International. 29:1987-2009 |
| ISSN: | 1433-2965 0937-941X |
| DOI: | 10.1007/s00198-018-4574-x |
| Popis: | Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation), they presented with variable severity and age of disease onset (at 4 years in patient 1 and at 23 years in patient 2). A review of the literature revealed several potential patho-physiologic pathways of HFTC clinical manifestations, some of which may be independent of hyperphosphatemia. Most available treatment options aim at reducing serum phosphate level, by stimulating renal excretion or by inhibiting intestinal absorption. HFTC is a challenging disease. While the available medical treatment has a limited and inconsistent effect on disease symptomatology, surgical resection of calcified masses remains the last resort. Research is needed to determine the safety and efficacy of FGF23 replacement or molecular therapy, targeting the specific genetic aberration. Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by recurrent calcified masses, in addition to other visceral, skeletal, and vascular manifestations. It remains a very challenging disease. |
| Databáze: | OpenAIRE |
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