Bibliographic Details
| Title: |
Hypophosphatemic Rickets with Hypercalciuria: A Novel Homozygous Mutation in SLC34A3 and Literature Review |
| Authors: |
Sanjay K. Bhadada, MD, DM, Subbiah Sridhar, MD, DM, Vandana Dhiman, PhD, Karen Wong, PhD, Bruce Bennetts, PhD, Dorit Naot, PhD, Sangumani Jayaraman, MD, Tim Cundy, MD |
| Source: |
AACE Clinical Case Reports, Vol 6, Iss 3, Pp e105-e112 (2020) |
| Publisher Information: |
Elsevier, 2020. |
| Publication Year: |
2020 |
| Collection: |
LCC:Diseases of the endocrine glands. Clinical endocrinology |
| Subject Terms: |
Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| More Details: |
ABSTRACT: Objective: Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, recessively-inherited form of rickets caused by homozygous or compound heterozygous mutations in the SLC34A3 gene that encodes the renal tubular phosphate transporter protein NaPi2c. The bone phenotype varies from severe rickets to no disease. Accurate diagnosis is important as the treatment differs from other forms of rickets. Methods: The patient was a 12-year-old boy from the Indian subcontinent with florid hypophosphatemic rickets. A targeted gene panel to search for mutations in genes associated with inherited forms of rickets was performed. We also completed a literature search of published cases of HHRH. Results: The targeted gene panel demonstrated a novel homozygous SLC34A3 mutation: c.1339 G>A (p.Ala447Thr). His parents were heterozygous for the mutation. In our literature review we found that people with homozygous SLC34A3 mutations were more likely to have rickets than those with compound heterozygous mutations (85% versus 45%, p |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2376-0605 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S2376060520300171; https://doaj.org/toc/2376-0605 |
| DOI: |
10.4158/ACCR-2019-0456 |
| Access URL: |
https://doaj.org/article/b1d61acb44cf4fbf9d1d90faad07b99f |
| Accession Number: |
edsdoj.b1d61acb44cf4fbf9d1d90faad07b99f |
| Database: |
Directory of Open Access Journals |
