Rickets Disease

Payton Moore

Hormones in the body play an important role in bone growth and development. Many hormones play a role in this but a particularly important one is vitamin D. Vitamin D plays a role in skeletal health because it regulates normal blood levels of calcium and phosphorus (Chanchlani 2020). Calcium stimulates bone synthesis which is the process of bone formation (Nield 2006). This helps bones become stronger. Phosphorus is also abundant in bones and has similar functions to calcium. A deficiency in vitamin D can cause a variety of problems such as rickets disease.

Rickets is a common disease worldwide that affects the health, growth, and development of children and adolescents (Chanchlani 2020). Rickets primarily affects long bones and it leads to poor bone growth, defective mineralization, and bony deformities such as knock-knees or bowed-legs. Osteoblasts are cells that build up bones and secrete the extracellular matrix (Chanchlani 2020). During bone maturation, the organic component of the bone matrix must be mineralized by calcium salts (Chanchlani 2020). This process can be inhibited in rickets disease which results in amassing of osteoid beneath the growth plate leading to softness in the bone overtime (Chanchlani 2020).

There are many different types of Rickets. The two most common types of rickets are vitamin D dependent rickets and vitamin D resistant rickets (Nield 2006). Other causes of rickets disease include certain types of medications, malignancy, prematurity, or kidney disease (Nield 2006).

Vitamin D dependent rickets disease generally occurs during the first year of life and is a rare autosomal recessive disease of vitamin D metabolism that occurs due to homozygous inactivating mutations in the CYP27B1 gene (Chanchlani 2020). This causes impaired production of the enzyme 1 alpha-hydroxylase which causes low serum levels of active metabolite calcitriol (Chanchlani 2020).

Vitamin D resistant rickets is also a rare autosomal recessive disease but it is caused by a defect in the calcitriol vitamin D receptor (Chanchlani 2020). This causes the body to be unresponsive to calcitriol. Calcitriol is a calcium-regulating hormone produced from vitamin D that is required for calcium absorption (Bland 2024). The body is unresponsive to calcitriol because vitamin D resistant rickets is hereditary. 

Renal rickets disease occurs in people who have chronic kidney disease. Chronic kidney disease causes a deficiency of the enzyme 1 alpha-hydroxylase, which decreases the production of 1, 25 hydroxyvitamin D which is calcitriol (Chanchlani 2020). Patients with chronic kidney disease can’t convert calcitriol into active calcitriol which makes vitamin D supplements ineffective (Chanchlani 2020). 

Surgical treatments for rickets disease may be needed in order to correct severe abnormalities but metabolic and nutritional deficiencies need to be corrected first (Nield 2006). Supplements of vitamin D, phosphorus, and calcium are commonly used to treat rickets disease. Different dosages, schedules, and routes are available for these treatments depending on the need of the patient. Single doses of 150,000 IU to 600,000 IU of vitamin D in patients as young as three months has been found to be adequate treatment for nutritional rickets (Nield 2006).

Rickets disease affects mostly children. Causes of rickets disease are mostly due to hormone deficiency such as a lack of vitamin D, phosphorus, and calcium. The most effective and commonly used treatment for rickets disease is improving diets and taking supplements.

Citations: 

Chanchlani, R., Nemer, P., Sinha, R., Nemer, L., Krishnappa, V., Sochett, E., Safadi, F., & Raina, R. (2020). An Overview of Rickets in Children. Kidney International Reports, 5(7), 980–990. https://doi.org/10.1016/j.ekir.2020.03.025 

Nield, L. S., Mahajan, P., Joshi, A., & Kamat, D. (2006). Rickets: Not a Disease of the Past. American Family Physician, 74(4), 619–626. https://www.aafp.org/pubs/afp/issues/2006/0815/p619.html

Hormones and Bone Health. (n.d.). The Institute for Functional Medicine. https://www.ifm.org/news-insights/hormones-and-bone-health/