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Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

Gauri Dhir, +4 more
- 01 Apr 2017 - 
- Vol. 97, pp 15-19
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TLDR
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.
About: 
This article is published in Bone.The article was published on 2017-04-01 and is currently open access. It has received 29 citations till now. The article focuses on the topics: Familial Hypophosphatemic Rickets & Hypercalciuria.

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Journal ArticleDOI

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy

Clemens Bergwitz, +1 more
- 01 Jan 2019 - 
TL;DR: Treatment of HHRH and IH consists of monotherapy with oral Pi supplements, while active vitamin D analogs are contraindicated, mainly because the endogenous 1,25(OH)2D levels are already elevated but also to prevent further worsening of the hypercalciuria.

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

Debayan Dasgupta, +26 more
TL;DR: A review of clinical and laboratory records of 133 individuals from 27 kindreds, including 5 previously unreported HHRH kindreds and two cases with IH, found individuals with mutations affecting both SLC34A3 alleles had a significantly increased risk of kidney stone formation or medullary nephrocalcinosis.
Journal ArticleDOI

Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment.

I Michałus, +1 more
- 25 Mar 2018 - 
TL;DR: There are rare genetic disorders from the group of vitamin D‐resistant rickets where the clinical picture is very similar to the classic forms and diagnosis of genetically conditioned rickets is often delayed.
Journal ArticleDOI

Personalized Intervention in Monogenic Stone Formers

Lucas Policastro, +5 more
- 01 Mar 2018 - 
TL;DR: New findings concerning monogenic kidney stone disease are synthesized, and an opportunity for increased use of genetic testing to improve the lives of pediatric and adult stone patients is identified.
Journal ArticleDOI

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria

Rebecca J Gordon, +5 more
- 01 Jul 2020 - 
TL;DR: A kindred with autosomal dominant hypophosphatemic rickets is described in which whole exome analysis identified digenic heterozygous mutations in S LC34A1 and SLC34A3, which highlight the challenges of assigning causality to plausible genetic variants in the next generation sequencing era.
References
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TL;DR: A new method and the corresponding software tool, PolyPhen-2, which is different from the early tool polyPhen1 in the set of predictive features, alignment pipeline, and the method of classification is presented and performance, as presented by its receiver operating characteristic curves, was consistently superior.
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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

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Related Papers (5)

Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

Debayan Dasgupta, +28 more
- 01 Oct 2014 - 

SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis

Clemens Bergwitz, +18 more
- 01 Feb 2006 - 

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy

Clemens Bergwitz, +1 more
- 01 Jan 2019 - 

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred

Y. Yu, +7 more
- 01 May 2012 - 

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

Natalia Mejía-Gaviria, +4 more
- 14 Jan 2010 -