Year: 2026
Type: review
Abstract: Rickets are chronic bone disorders marked by impaired mineralization of the growing skeleton. While most cases arise from nutritional deficiencies, non-nutritional forms are frequently underrecognized. Subtle signs such as alopecia in vitamin D dependent rickets type 2A, cataract in Lowe syndrome, dental abscesses or sensorineural hearing loss in X-linked hypophosphatemia can prompt timely diagnosis and referral. A structured approach combining growth and skeletal assessment, targeted biochemistry (calcium, phosphate, alkaline phosphatase, parathyroid hormone, 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D), radiography, and early genetic testing once nutritional deficiency or renal failure are excluded improves diagnostic accuracy. Molecular confirmation enables precise subclassification into hypophosphatemic and calciopenic rickets, supporting genotype-directed therapy, including burosumab for X-linked hypophosphatemia. Early, tailored treatment enhances radiographic healing, growth, and function. Emerging genotype-phenotype correlations further inform genetic counselling and prognosis, strengthening the multidisciplinary management of these complex disorders.
DOI: 10.5409/wjcp.122166
Authors: Pratyush Prateek Pathak, Sayantan Ray
Institution: All India Institute of Medical Sciences Bhubaneswar
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7163506978