Otologische Manifestation der X-chromosomalen Hypophosphatämie

Introduction

X-linked hypophosphatemia (XLH) is the most common form of hereditary hypophosphatemic rickets and is caused by mutations in the PHEX gene. Hearing loss is associated with XLH, with a prevalence ranging from 16% to 76% depending on the population studied, age and diagnostic criteria, and clinical manifestations described as highly variable. The present study aimed to describe the otological manifestations of four patients in terms of their audiometric data and clinic findings and to compare them with the current literature.

Method

A retrospective analysis of four patients with XLH who presented at our clinic between 2017 and 2021 was performed. The cases were characterized with regard to the type and the course of their hearing disorder, the accompanying symptoms (vertigo, tinnitus, otitis) and the indication for hearing rehabilitation and compared with the current literature.

Results

All patients had sensorineural hearing loss without conductive component. Three of the four patients had a hearing loss and two had Menière-like symptoms. These two patients were fitted with a CI during follow-up. One patient reported recurrent otitis. In all four patients with XLH, the otological complaints occurred in adulthood.

Conclusion

In this series, two out of four patients presented with a CI indication. The observations of clinical features were consistent with the current literature. In future, larger clinical studies are needed to further characterize the ORL-related clinical findings of X-linked hypophosphatemia.

Conflict of Interest

The author declares that there is no conflict of interest.

Publication History

Article published online:
24 May 2022