Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

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 reportedFGF23 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 sti mulating 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 s afety 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 rema ins a very challenging disease.
Source: Osteoporosis International - Category: Orthopaedics Source Type: research

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Source: Archives of Orthopaedic and Trauma Surgery - Category: Orthopaedics Source Type: research
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Source: Archives of Orthopaedic and Trauma Surgery - Category: Orthopaedics Source Type: research
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Source: Archives of Orthopaedic and Trauma Surgery - Category: Orthopaedics Source Type: research
Source: Osteoporosis International - Category: Orthopaedics Source Type: research
Source: Osteoporosis International - Category: Orthopaedics Source Type: research
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Source: Current Osteoporosis Reports - Category: Orthopaedics Source Type: research
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Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
ABSTRACTVitamin D (VitD) is commonly prescribed to normalise deficiencies and to treat osteoporosis. However, the effect VitD supplements have on skeletal muscle health is equivocal. While VitD is known to play a role in the various processes that maintain muscle integrity and function, recent studies utilising high bolus dose VitD supplementation has demonstrated an increased risk of falls. Thus, the aim of this study was to investigate the effects of high VitD supplementation on skeletal muscle function with and without exercise enrichment. Four ‐week old C57BL/10 mice (n = 48) were separated into either norm...
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
This article is protected by copyright. All rights reserved.
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
Updated guidance for osteoporosis now includes a recommendation for the use of romosozumab, but only in severe osteoporosis and not in women with a history of myocardial infarction or stroke.Medscape Medical News
Source: Medscape Cardiology Headlines - Category: Cardiology Tags: Diabetes & Endocrinology News Source Type: news
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