Non-nutritional rickets: Approach, precision medicine, and outcomes
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.
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BibTeX
@article{pathak2026nonnutritional,
title = {{Non-nutritional rickets: Approach, precision medicine, and outcomes}},
author = {Pratyush Prateek Pathak and Sayantan Ray},
journal = {World Journal of Clinical Pediatrics},
year = {2026},
month = nov,
doi = {10.5409/wjcp.122166},
url = {https://doi.org/10.5409/wjcp.122166},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Non-nutritional rickets: Approach, precision medicine, and outcomes
AU - Pratyush Prateek Pathak
AU - Sayantan Ray
PY - 2026
DA - 2026/11/03
JO - World Journal of Clinical Pediatrics
DO - 10.5409/wjcp.122166
UR - https://doi.org/10.5409/wjcp.122166
AB - 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.
SN - 2219-2808
ER -