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Case Reports
. 2019 May 17;4(8):1179-1186.
doi: 10.1016/j.ekir.2019.05.004. eCollection 2019 Aug.

Description of 5 Novel SLC34A3/ NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria

Alyssa Chen  1   2 , Hannah Ro  1 , Venkat Ram Rakesh Mundra  3 , Kelly Joseph  4 , Dennis Brenner  5 , Thomas O Carpenter  4 , Dana V Rizk  3 , Clemens Bergwitz  1
Affiliations
Case Reports

Description of 5 Novel SLC34A3/ NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria

Alyssa Chen et al. Kidney Int Rep. .
No abstract available

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Figures

Figure 1
Figure 1
Pedigrees and SLC34A3/NPT2c genotypes
Figure 2
Figure 2
Differential diagnosis of hypercalciuric and hypophosphatemic disorder. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) may present initially with bone disease or renal calcifications. Bone disease is generally missing in heterozygous carriers of SLC34A3/NPT2c mutations. The presence of additional symptoms in orange further support the diagnosis, whereas symptoms in green argue against it. ADHR, autosomal-dominant hypophosphatemic rickets; ARHP1, autosomal-recessive hypophosphatemia type 1; MAS/FD, McCune-Albright/fibrous dysplasia; TIO, tumor-induced osteomalacia. (For gene names, see text and Table 2.)
See this image and copyright information in PMC

References

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