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Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays
Published on: January 7, 2016
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Growth hormone therapy in HHRH
Guido Filler1,2,3,4, Clara Schott5, Fabio Rosario Salerno6,4
1Departments of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Canada.
Bone Reports
|June 6, 2022
Summary
Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a genetic disorder affecting phosphate regulation. Combining growth hormone, fluconazole, and salt restriction with standard therapy improved patient outcomes, suggesting new treatment avenues.
Area of Science:
- Nephrology
- Endocrinology
- Genetics
Background:
- Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is an autosomal recessive disorder caused by a loss of function in the renal sodium-phosphate NPT2c transporter.
- Standard phosphate supplementation is often ineffective in treating HHRH symptoms, including hypercalciuria and short stature.
Observation:
- A 12-year-old male with HHRH presented with chronic bone pain, pathological fractures, hypophosphatemia, nephrocalcinosis, and severe hypercalciuria.
- Conventional treatment with phosphate and potassium citrate failed to resolve the patient's symptoms.
Findings:
- The addition of recombinant human growth hormone (rhGH) improved the patient's height z-score and bone pain.
- Fluconazole treatment led to a reduction in 1,25(OH)2D levels and hypercalciuria.
- 23Na MRI revealed normal sodium levels in skin and muscle, supporting the rationale for a low-sodium diet.
Implications:
- Combined therapy including rhGH, fluconazole, and salt restriction offers a promising approach to managing HHRH.
- Further research is warranted to validate these findings in larger patient cohorts.
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