ArticleOrphanet journal of rare diseases2020
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Vitamin D-dependent Rickets Type 1A: Recognizing Clinical Clues to Avoid Delayed Diagnosis.Cureus · 2026Article
- Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam.Diagnostics (Basel, Switzerland) · 2025Article
- A Novel Compound Nonsense Variant inDiseases (Basel, Switzerland) · 2024Article
- Hereditary Rickets: A Quick Guide for the Pediatrician.Current pediatric reviews · 2024Review
- An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature.Clinical case reports · 2023Article
- Genetic Forms of Calciopenic Rickets.The Eurasian journal of medicine · 2022Article
- Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.Experimental and therapeutic medicine · 2022Article
- Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.Frontiers in pediatrics · 2022Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveVitamin D-dependent rickets type IA (VDDR-IA) is a rare autosomal recessive disorder characterized by the early onset of severe rickets. The objectives of this study were twofold: (1) to analyze the clinical characteristics and therapy of two patients with VDDR-IA from two separate Chinese families, and (2) investigate the CYP27B1 gene mutations in two large pedigrees.
methodsMedical history, clinical manifestations, physical examination, radiological findings and laboratory data were analyzed from two patients with VDDR-IA. Serum 1, 25-dihydroxyvitamin D [1, 25-(OH)
resultsTwo patients had typical manifestations and radiological evidence of rickets. Laboratory data showed hypocalcaemia and hypophosphataemia, along with high levels of serum alkaline phosphatase, parathyroid hormone and 25-hydroxyvitamin D
conclusionsThis study identified a recurrent seven-nucleotide insertion of CYP27B1 in two large pedigrees, and compared the clinical characteristics and individual therapy of two affected patients. Additionally, our experience further supports the notion that nephrocalcinosis can occur even on standard doses of calcitriol and oral calcium, and normal level of serum calcium, phosphorus, PTH and 25-(OH)D
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