Rakitisosteomalaci

Rakitisosteomalaci refers to a spectrum of disorders characterized by defective mineralization of bone, encompassing rickets in children and osteomalacia in adults. The underlying problem is impaired deposition of calcium and phosphate into the bone matrix, most commonly due to deficiency of vitamin D, calcium, or phosphate, but it can also result from malabsorption, liver or kidney disease, genetic disorders, or certain medications.

In children, the condition is classically called rickets and presents with slow growth and skeletal deformities such as bowed legs, thickened wrist and ankle joints, and frontal bossing. Dental problems, delayed tooth eruption, and muscle weakness may also occur. In adults, the term osteomalacia is used and manifests as bone pain, diffuse bone tenderness, proximal muscle weakness, and an increased risk of stress or insufficiency fractures. Both conditions can lead to skeletal deformities if untreated, and may cause dental and growth abnormalities in affected individuals.

Diagnosis relies on clinical features supported by laboratory and imaging findings. Blood tests often show low 25-hydroxyvitamin D, variable calcium and phosphate levels, elevated alkaline phosphatase, and secondary hyperparathyroidism. Urine findings may indicate phosphate wasting in certain etiologies. X-rays in rickets show metaphyseal cupping and fraying, while osteomalacia may reveal Looser’s zones or pseudofractures. Bone density testing can show decreased mineral density.

Treatment targets the underlying cause and typically includes vitamin D supplementation (with dosage adjusted to age and severity), calcium supplementation if needed, and addressing malabsorption or renal/hepatic disease. Adequate dietary intake and sensible sun exposure support vitamin D status. Prevention focuses on fortification and ensuring sufficient vitamin D and calcium, especially in at-risk populations.