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Printable Handouts
Navigable Slide Index
- Introduction
- Disclosures
- X-Linked Hypophosphatemia (XLH)
- PHEX
- PHEX online database
- X-linked dominant inheritance: from the father
- X-linked dominant inheritance: from the mother
- A multigenerational practice
- Diagnosis in children: known XLH
- Diagnosis in children: unknown XLH
- Rickets: physical findings
- Rickets: radiographic findings
- Morphology of the growth plate in rickets
- Osteomalacia
- Cranial anomalies
- Dental abcesses
- Course of disease in children
- Course of disease: bone changes
- Diagnosis in adults
- Adult symptoms
- X-linked hypophosphatemic rickets
- Osteophytes and calcified entheses
- Bridging osteophytes: lumbar and thoracic spine
- Diagnosis: challenges
- Clinical biochemistry of XLH
- Laboratory studies
- The classical view
- Why does this happen?
- The FGF family
- Pathophysiology of XLH
- FGF23-mediated hypophosphatemia
- Treatment
- Conventional treatment (1)
- Conventional treatment (2)
- Monitoring therapy
- Complications of this therapy
- Adjunctive therapy
- Antibody therapy
- Targeting FGF23 as a treatment
- Treatment in adults?
- Fracture/Pseudofracture (Fx/PFx) healing
- Active pseudofracture (PFx) healing
- 24-year-old female treated with burosumab
- Osteomalacia treatment
- Future directions/unmet needs
- Summary
- Thank you
Topics Covered
- PHEX gene mutations
- X-linked dominant inheritance
- Rickets
- Osteomalacia
- Diagnosis in children
- Course of disease
- Diagnosis in adults
- Pathophysiology of XLH
- Treatment of XLH
- Conventional treatment
- Targeting FGF23 as a treatment
Links
Series:
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Therapeutic Areas:
External Links
Talk Citation
Carpenter, T.O. (2023, July 31). X-linked hypophosphataemia: genetics, diagnosis and management [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 5, 2024, from https://doi.org/10.69645/NBZY9704.Export Citation (RIS)
Publication History
Financial Disclosures
- Thomas Carpenter (speaker): has no commercial relationships to disclose Ashik Mohamed (editor): has no commercial relationships to disclose
Other Talks in the Series: Periodic Reports: Advances in Clinical Interventions and Research Platforms
Transcript
Please wait while the transcript is being prepared...
0:00
Hello, this is Tom Carpenter.
I'm Professor of Pediatrics
at the Yale University
School of Medicine.
I've had a career
long interest in
metabolic bone
diseases in children,
and I'm grateful today to
the Henry Stewart group for
asking me to talk
about one of my favorite
topics in this area,
and that is the genetic disorder
of X-linked type
of phosphatemia,
the most common form of
inherited rickets that
clinicians encounter.
0:30
My disclosures are shown here.
0:35
X-linked hypophosphatemia is
the most common cause
of inherited rickets.
It's predominantly explained by
excessive renal
phosphate losses.
It presents usually in
young childhood with rickets
and leg deformities.
Osteomalacia also occurs,
but usually not visible
to the clinician.
The skeletal deformity
can be progressive,
and short stature is also
a common manifestation
of this disorder.
Other features that
occur that are less well
recognized as features of
this disorder are
dental abscesses,
which can be frequent and
devastating to overall
lifelong dentition.
And craniosynostosis may occur
to variable extend so
that the head shape may
be abnormal and that
rarely surgical intervention
may be required.
This photograph shows sisters,
actually twins, one of
which has this disorder.
And you can see
despite the same age,
the affected girl has both legs,
and it's much shorter.
Biochemical findings seen
in the disorder include
low blood phosphate levels and
decreased indices of renal
phosphate retention.
That is a decreased
tubular reabsorption
of phosphate and a reduced
threshold maximum for
phosphate as corrected
by glomerular filtration
rate or TMP/GFR.
These low indices indicate
that for a given serum
phosphorus level,
excessive amounts of phosphate
are showing up in the urine.
Also interestingly, there is
a secondary biochemical
abnormality
that for many years
has been unexplained,
that is until recently.
And that is that the
circulating 1,25 dehydroxy
vitamin D level,
the activated metabolite
of vitamin D tends to be
low or normal but
inappropriately
so given the low blood
phosphate level,
which is a general stimulus for
the production of this
active metabolite.