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Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3'-UTR change as a possible cause.

Bone

May 2024

Department of Molecular Endocrinology, Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima, Japan; Department of Diabetes and Endocrinology, Tamaki-Aozora Hospital, Tokushima, Japan. Electronic address:

Excessive actions of FGF23 cause several kinds of hypophosphatemic rickets/osteomalacia. It is possible that there still remain unknown causes or mechanisms for FGF23-related hypophosphatemic diseases. We report two male cousins who had been suffering form FGF23-related hypophosphatemic osteomalacia.

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Background: Osteomalacia (OM) is frequently confused with various musculoskeletal or other rheumatic diseases, especially in patients with adult-onset widespread musculoskeletal pain because of its low prevalence and non-specific manifestations.

Aim: To facilitate the early diagnosis and etiology-specific treatment of adult-onset hypophosphatemic OM.

Methods: A retrospective review of medical records was performed to screen adult patients who visited a physiatry locomotive medicine clinic (spine and musculoskeletal pain clinic) primarily presenting with widespread musculoskeletal pain at a single tertiary hospital between January 2011 and December 2019.

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Diagnosis and management of tumor-induced osteomalacia: a single center experience.

Endocrine

November 2023

Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Istanbul Faculty of Medicine, Capa, Istanbul, Turkey.

Purpose: The aim of this study is to review the clinical and laboratory characteristics, diagnostic and treatment modalities of tumor-induced osteomalacia (TIO) cases managed in a single center.

Material Methods: Demographic and clinical features, biochemical findings, diagnostic procedures, treatment modalities, and outcomes of nine patients who had the diagnosis of TIO were reviewed retrospectively.

Results: Mean age of the study group (F/M: 4/5) was 45.

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Article Synopsis
  • Hypophosphatemic osteomalacia (HO) is a rare disease marked by low phosphate levels, causing poorly mineralized bones, and includes types like XLH, ADHR, TIO, and sporadic HO.
  • A 48-year-old man with a long history of psoriasis and joint pain was misdiagnosed with psoriatic arthritis and unresponsive to standard treatments before being correctly diagnosed with HO.
  • After treatment with oral phosphate, calcium, and vitamin D, his symptoms improved, but yearly scans for tumors related to TIO returned negative over four years, highlighting the diagnostic challenges of HO, especially when it coexists with psoriasis.
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Hypophosphatemic rickets can cause a variety of bone and joint symptoms, one of its rare presentations is sacroiliac joint involvement, which may be mistaken for inflammatory spondylitis. Here, we report the case of a 31-year-old African American woman who presented with a two-year history of lower back pain and morning stiffness, initially suspected to be due to inflammatory spondyloarthritis. Laboratory tests revealed negative inflammatory markers, normal serum calcium, vitamin D3, and parathyroid hormone levels; however, the alkaline phosphatase levels were elevated and serum phosphorus level was low.

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