Abstract | SUMMARY: INTRODUCTION: METHODS: A 36-year-old woman presented with abnormal dental X-rays at age 12 and was hyperphosphatemic at 22. She underwent radiographic, biochemical and genetic testing, and medical treatment. RESULTS: Serum phosphorus was 7.3 mg/dL (2.5-4.8), TmP/GFR 6.99 mg/100 mL (2.97-4.45), 1,25-D(3) 35 pg/mL (22-67). Radiographs revealed tooth anomalies, thyroid cartilage calcification, calcific masses in vertebral spaces, calcification of the interstitial septa of the soft tissue in the lower extremities, and cortical thickening of the long bones. Her total hip Z score was 1.9. C-terminus serum FGF23 was 1,210 RU/mL (20-108), but intact FGF23 was 7.4 pg/mL (10-50). DNA sequencing determined she was a compound heterozygote for mutations in GALNT3. Treatment with niacinamide and acetazolamide decreased TmP/GFR and serum phosphate, which was paralleled by a decrease in serum C-terminus FGF23. CONCLUSIONS: This case broadens the spectrum of phenotypic and genotypic features of FTC/HHS and suggests treatments to decrease renal phosphate reabsorption in the setting of a low intact FGF23.
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Authors | C E Dumitrescu, M H Kelly, A Khosravi, T C Hart, J Brahim, K E White, E G Farrow, M H Nathan, M D Murphey, M T Collins |
Journal | Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
(Osteoporos Int)
Vol. 20
Issue 7
Pg. 1273-8
(Jul 2009)
ISSN: 1433-2965 [Electronic] England |
PMID | 18982401
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural)
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Chemical References |
- Diuretics
- FGF23 protein, human
- Phosphates
- Vitamin B Complex
- Niacinamide
- Fibroblast Growth Factors
- Fibroblast Growth Factor-23
- N-Acetylgalactosaminyltransferases
- Acetazolamide
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Topics |
- Acetazolamide
(therapeutic use)
- Adult
- Calcinosis
(drug therapy, genetics)
- Child
- Diuretics
(therapeutic use)
- Female
- Fibroblast Growth Factor-23
- Fibroblast Growth Factors
(blood)
- Heterozygote
- Hip Joint
(diagnostic imaging)
- Humans
- Hyperostosis
(drug therapy, genetics)
- Hyperphosphatemia
(drug therapy, genetics)
- N-Acetylgalactosaminyltransferases
(genetics)
- Niacinamide
(therapeutic use)
- Phosphates
(blood)
- Radiography
- Vitamin B Complex
(therapeutic use)
- Young Adult
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