Which are the causes of Rickets?

Rickets is primarily caused by a deficiency in vitamin D, calcium, or phosphate, which prevents bones from hardening, leading to soft and weak skeletal structures. While nutritional deficiencies are the most common cause, Rickets can also arise from inherited genetic mutations that impair how the body processes these essential minerals.

What are the primary causes of Rickets?

The development of Rickets is rooted in metabolic failure to mineralize the growing skeleton. Think of the bone as a building: calcium and phosphate are the bricks, and vitamin D is the construction worker that helps place them. If the worker is missing or the bricks are unavailable, the building remains soft and flexible instead of solid. While nutritional Rickets is common in areas with limited sunlight or poor dietary intake, metabolic forms occur when the kidneys or gut fail to regulate these minerals properly.

Is Rickets hereditary?

Yes, specific forms of the condition, such as X-linked hypophosphatemic Rickets, are hereditary. In these cases, genetic mutations—most commonly in the PHEX gene—disrupt the body’s ability to reabsorb phosphate in the kidneys. Unlike nutritional Rickets, which is environmental, these genetic variants require specialized medical management to supplement phosphate and active vitamin D.

What are the risk factors for developing Rickets?

Environmental and lifestyle factors significantly increase the risk of developing Rickets. Key risk factors include:

• Limited sun exposure: Skin needs ultraviolet B (UVB) rays to synthesize vitamin D.


• Dietary intake: Exclusive breastfeeding without vitamin D supplementation or diets low in calcium.


• Malabsorption syndromes: Conditions like celiac disease or cystic fibrosis that prevent the intestines from absorbing nutrients.


• Prematurity: Infants born prematurely have less time to accumulate mineral stores during pregnancy.

What is the current state of research?

While the pathways for nutritional Rickets are well-understood, researchers are currently focusing on the long-term skeletal outcomes of genetic Rickets and the development of targeted therapies like Burosumab. Ongoing studies aim to better distinguish between rare, refractory forms of the disease and standard nutritional deficiencies to ensure faster diagnosis.

Next steps

• Consult a pediatric endocrinologist for blood tests checking calcium, phosphate, and alkaline phosphatase levels.


• Discuss vitamin D and mineral supplementation with your healthcare provider.


• Join the DiseaseMaps.org community to connect with others sharing their experiences with Rickets.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Rickets.


• Orphanet: Rare endocrine diseases database.


• OMIM (Online Mendelian Inheritance in Man): Hypophosphatemic rickets entries.


• UpToDate: Overview of Rickets in children.