X-Linked Hypophosphatemic Rickets: A Report of Three Sisters with a Variant in the PHEX Gene with Healthy Parents, One of Them with Two Affected Children

Case Report

Volume 8, Issue 3

X-Linked Hypophosphatemic Rickets: A Report of Three Sisters with a Variant in the PHEX Gene with Healthy Parents, One of Them with Two Affected Children

María Beatriz Barrios Escobar^1,4, Hernando Vargas-Uricoechea^2*, Andrea Ramos Díaz³, Hernán Darío Oviedo Ramos³ and Alejandro Castellanos Pinedo^3,4

¹Universidad del Sinú, Montería 230001, Colombia
²Metabolic Diseases Study Group, Department of Internal Medicine, Universidad del Cauca, Carrera 6 No. 13N-50, Popayán 190001, Colombia
³Hospital San Jerónimo, Montería 230001, Colombia
⁴Faculty of Medicine, Universidad del Sinú, Hospital San Jerónimo, Montería 230001, Colombia

^*Corresponding author: Hernando Vargas-Uricoechea; Metabolic Diseases Study Group, Department of Internal Medicine, Universidad del Cauca-Colombia.
E-mail: hernandovargas@unicauca.edu.co

Received: May 02, 2026; Accepted: May 19, 2026; Published: June 05, 2026

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X-Linked Hypophosphatemic Rickets: A Report of Three Sisters with a Variant in the PHEX Gene with Healthy Parents, One of Them with Two Affected Children

Abstract

We describe three clinical cases of sisters with X-linked hypophospha-temia (XLH), due to a pathogenic variant in the PHEX gene, born to healthy parents with no genetic findings. One sister has two children affected at an early age, with the same mutation. All three presented with bone symptoms from childhood and did not receive specific treatment. The report emphasizes the importance of early diagnosis, family study, and a multidisciplinary approach in rare inherited disorders of calcium and phosphorus metabolism.

Keywords: X-linked hypophosphatemia; PHEX gene; Hypophosphatemic rickets; X-linked dominant inheritance