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Recognising and diagnosing X-linked hypophosphataemia in paediatric practice
- Dr Sanjay GuptaConsultant paediatrician at Hull University Teaching Hospitals NHS Trust
Key points
- X-linked hypophosphataemia can present to dentists, neurosurgeons, orthopaedic surgeons and paediatricians, so a high index of suspicion matters.
- In 20 to 30% of cases the condition arises from de novo mutations, so a family history may be absent.
- It is most commonly misdiagnosed as nutritional rickets, and laboratories should use age- and sex-specific phosphate ranges rather than adult ones.
Dr Sanjay Gupta, consultant paediatrician at Hull University Teaching Hospitals NHS Trust, discusses the importance of recognising rare diseases such as X-linked hypophosphataemia (XLH) in children. He emphasises that while a family history may raise suspicion for this X-linked dominant condition, up to 20–30% of cases are due to de novo mutations and may present to a variety of healthcare professionals—including dentists (for dental abscesses), neurosurgeons (for head shape deformities), orthopaedic surgeons, and paediatricians. These practical tips aim to improve early recognition and accurate diagnosis of XLH, ultimately enhancing care for affected children. This interview took place at the RCPCH conference 2025 in Glasgow, Scotland.
Read the transcript
Automatic transcript, lightly edited for readability. It may contain errors, so check it against the video before quoting.
Today I did a talk on a rare disease, which is X-linked hypophosphataemia. So I've got a cohort of patients belonging to a family, and it's important, I think, for general paediatricians. So I'm a general paediatrician with an interest to be aware of how these children can present. So of course if there's a family history, it's an X-linked dominant condition, so you might have a suspicion that the child may have this condition. But of course, in 20 to 30% they are de novo mutations, and they may present to various professionals, like to the dentists with dental abscesses, to the neurosurgeons for head-shaped deformities, to the orthopaedic surgeons, and to the paediatricians.
So I think having a high index of suspicion is quite important, because most commonly I think they're misdiagnosed as nutritional rickets, which of course is commoner than X-linked hypophosphataemia.
The other thing, I think, the other advice or tip I would give to the general paediatricians is to make sure that the lab is using the appropriate phosphate ranges, which are age and sex specific, because the adult range is much lower than that is in for the children. So if you're using the adult reference ranges you may not pick up the hypophosphataemia in children. So those two tips I would like to say. Yeah.
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Cite this video
Dr Sanjay Gupta. “Recognising and diagnosing X-linked hypophosphataemia in paediatric practice.” The Paediatric Video Journal, 4 July 2025. https://paediatricvj.com/videos/recognising-and-diagnosing-x-linked-hypophosphataemia-in-gupta/
This interview is educational content intended for healthcare professionals and is not medical advice. Views expressed are those of the speaker. © The Paediatric Video Journal. All rights reserved.