Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5585438 | Bone | 2017 | 5 Pages |
Abstract
HHRH is an uncommon autosomal recessive disease that generally manifests in childhood as rickets or nephrolithiasis, but an adult onset phenotype may occur in heterozygous carriers of SLC34A3 mutations. The severe presentation of this proband in adulthood with marked nephrolithiasis, multiple fractures and low bone density emphasizes the importance of measuring the serum phosphorus level in patients with suspected but unexplained osteoporosis and/or recurrent renal stones. The recognition of late-onset HHRH facilitates timely institution of appropriate therapy.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Developmental Biology
Authors
Gauri Dhir, Dong Li, Hakon Hakonarson, Michael A. Levine,