Hereditary hypophosphatemic rickets: Our experience
Not Applicable
- Conditions
- Health Condition 1: E889- Metabolic disorder, unspecifiedHealth Condition 2: E889- Metabolic disorder, unspecified
- Registration Number
- CTRI/2021/11/038036
- Lead Sponsor
- Department of endocrinology
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Yet Recruiting
- Sex
- Not specified
- Target Recruitment
- 0
Inclusion Criteria
Patients with clinical diagnosis of Hypophosphatemic rickets .(Patients with rickets/osteomalacia with persistently low levels of phosphorus, normal calcium, normal/mildly elevated PTH, elevated levels of ALP and/or elevated FGF23 and/or ratio of tubular maximum reabsorption rate of phosphate to glomerular filtration rate.)
Exclusion Criteria
•Those patients with hypophosphatemia with inadequate clinical and biochemical information will be excluded from the study.
•No consent for prospective study group
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Prospectively study genetics by next generation sequencing (NGS) in hypophosphatemic rickets.Timepoint: 2 years
- Secondary Outcome Measures
Name Time Method â?¢Genotype and phenotype correlation of hereditary hypophosphatemic ricketsTimepoint: 2 years