Major Research Findings

Rickets is a disease that occurs when bones are weak and don’t harden properly. It’s most often caused by a vitamin D deficiency. 10 reports on a new type of rickets called Vitamin D-Dependent Rickets type 3 (VDDR3) which is caused by a genetic mutation in the CYP3A4 gene. This mutation accelerates the inactivation of Vitamin D metabolites. In children with rickets, 9 describes the impact of surgery and complications arising from traditional orthopedic treatments for X-linked hypophosphatemic rickets (XLHR). A new antibody drug, burosumab, can now be used to treat XLHR in children with a Rickets Severity Score ≥2. Burosumab has been shown to prevent bone deformities and improve gait endurance.

21 highlights the effectiveness and safety of cinacalcet in the treatment of hereditary vitamin D resistant rickets (HVDRR). Cinacalcet is a calciomimetic drug that reproduces the action of calcium by increasing the sensitivity of the calcium-sensitive receptors (CASR) of the parathyroid glands, which regulate the secretion of parathyroid hormone (PTH). In patients with HVDRR who are resistant to traditional calcium and calcitriol treatment due to mutations in the DNA-binding domain of the vitamin D receptor, cinacalcet could be used as an adjunctive treatment.

1 compares the effects of oral calcium, high-dose vitamin D, and a combination of both in treating nutritional rickets in children. The researchers concluded that vitamin D deficiency is the primary factor causing rickets, but a better response to treatment was observed with vitamin D alone or in combination with calcium than with calcium alone.

11 evaluated the effect of burosumab on serum phosphate and physical performance in adult patients with XLH. The study found that a six-month treatment with burosumab significantly improved the general condition and physical performance of adult patients with XLH. However, the improvement in serum phosphate was more variable, and this suggests that the overall improvement in the patient’s physical condition and quality of life is a better indicator of treatment efficacy than serum phosphate levels alone.

Treatment Summary

10 found that administering 10,000 IU of cholecalciferol daily was an effective treatment for VDDR3. 9 showed that burosumab is effective in treating XLHR, preventing bone deformities, and improving gait endurance. 21 indicates that cinacalcet can be used as an adjunctive treatment for HVDRR. It is a calciomimetic drug that enhances the sensitivity of calcium-sensitive receptors (CASR) in the parathyroid glands.

1 showed that treatment with vitamin D alone or in combination with calcium was more effective than calcium alone in treating nutritional rickets.

7 reported that vitamin D deficiency is the most common cause of nutritional rickets and that vitamin D, with or without calcium, is often regarded as the main treatment.

13 identified vitamin D and/or calcium deficiency as the most common causes of nutritional rickets, highlighting the importance of supplementation.

2 suggests that recombinant human growth hormone therapy, combined with conventional treatment, could improve growth velocity, phosphate retention, and bone mineral density in children with X-linked hypophosphatemia.

Benefits and Risks

Benefit Summary

Treatment options for rickets include cholecalciferol, burosumab, cinacalcet, oral phosphate, calcium, and growth hormone. These treatments can have several benefits, such as improvement in bone deformities, increased growth velocity, improved serum phosphate levels, improved gait endurance, and relief of rickets symptoms.

Risk Summary

Cholecalciferol can cause hypercalcemia if taken in excess. Burosumab has been reported to have mild side effects such as headaches and nausea. Cinacalcet has been reported to have side effects such as hypocalcemia and gastrointestinal problems. Oral phosphate can cause gastrointestinal side effects and hyperphosphatemia. Calcium can cause hypercalcemia if taken in excess. Growth hormone may worsen bone deformities.

Comparison Between Studies

Commonalities

These studies share a common goal of identifying effective treatments for rickets, with a focus on vitamin D, calcium, phosphate, and growth hormone therapies. The findings consistently emphasize the importance of personalized treatment plans based on individual patient conditions.

Differences

These studies differ in their focus on specific types of rickets and treatments. For instance, 10 focuses on VDDR3, while 1 focuses on nutritional rickets. Similarly, 9 examines the efficacy of burosumab, whereas 21 evaluates cinacalcet.

Consistency and Contradictions in Results

The research results emphasize the need for personalized treatments tailored to the specific condition of each patient. Due to variations in rickets types and treatment approaches across the studies, it is challenging to definitively assess the consistency and contradictions in the results.

Practical Implications

When considering treatment for rickets, it is essential to choose a treatment plan that is suitable for each individual patient’s specific condition. It is crucial to consult with a healthcare professional before starting any treatment to fully understand the potential benefits and risks involved. It’s also recommended to follow up with your doctor regularly to monitor for any side effects.

Limitations of Current Research

These studies have limitations, including small sample sizes and variations in the types of rickets and treatment approaches. This makes it difficult to generalize the results and interpret them with certainty.

Future Research Directions

Future research should focus on larger sample sizes and include a wider variety of rickets types. Further research is also needed to understand the long-term effects and potential side effects of these treatments.

Conclusion

Treating rickets requires a personalized approach based on each individual’s unique condition. These studies provide valuable insights into treatment options for rickets, but more comprehensive research is necessary to expand our understanding. If you have any concerns about rickets, it is recommended to consult with a healthcare professional.

Treatment List

Cholecalciferol, burosumab, cinacalcet, oral phosphate, calcium, growth hormone.