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

Chen, Alyssa; Ro, Hannah; Mundra, Venkat Ram Rakesh; Joseph, Kelly; Brenner, Dennis; Carpenter, Thomas O.; Rizk, Dana V.; Bergwitz, Clemens

doi:10.1016/j.ekir.2019.05.004

Cited by 15 publications

(13 citation statements)

References 8 publications

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“… 27 The pathophysiology of enthesis calcification remains speculative, but it is likely directly related to FGF23 since it is present in other forms of FGF23-mediated hypophosphatemia 28 but absent from patients with SLC34A3 variants, a genetic form of hypophosphatemic rickets not mediated by FGF23. 29 A mouse model of ENPP1 deficiency recapitulates the phenotype of calcification of fibrocartilage (present in entheses), tendons and ligaments. 30 …”

Section: Discussionmentioning

confidence: 99%

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Ferreira

Hackbarth

Ziegler

et al. 2021

Genetics in Medicine

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Purpose Generalized Arterial Calcification of Infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6, a membrane transporter. The natural history of GACI survivors has not been established in a prospective fashion. Methods We performed deep phenotyping of 20 GACI survivors. Results Sixteen of twenty subjects presented with arterial calcifications, but only 5 had residual involvement at the time of evaluation. Individuals with ENPP1 deficiency either had hypophosphatemic rickets or were predicted to develop it by 14 years of age; 14/16 had elevated intact FGF23 levels (iFGF23). Blood phosphate levels correlated inversely with iFGF23. For ENPP1-deficient individuals, the lifetime risk of cervical spine fusion was 25%, that of hearing loss was 75%, and the main morbidity in adults was related to enthesis calcification. Four ENPP1-deficient individuals manifested classic skin or retinal findings of PXE. We estimated the minimal incidence of ENPP1 deficiency at ~1 in 200,000 pregnancies. Conclusions GACI appears to be more common than previously thought, with an expanding spectrum of overlapping phenotypes. The relationships among decreased ENPP1, increased iFGF23, and rickets could inform future therapies.

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Section: Discussionmentioning

confidence: 99%

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Ferreira

Hackbarth

Ziegler

et al. 2021

Genetics in Medicine

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“…In this case, hypophosphatemia secondary to renal wasting leads to suppression of fibroblast growth factor 23 (FGF23), increased 1,25(OH) 2 D, and hypercalciuria. 11,12 Thus it is possible that sustained hypercalciuria or exposure to increased 1,25(OH) 2 D concentration, could be factors in cyst development.…”

Section: Discussionmentioning

confidence: 99%

High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency

Hanna

Potretzke

Cogal

et al. 2021

Kidney International Reports

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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“…Hereditary hypophosphatemic rickets with hypercalciuria results from the loss of function mutations in the SLC34A3 gene that encodes NaPi-2c, with consequent tubular Pi wasting and hypophosphatemia [135][136][137]. An increased number of novel mutations in the SLC34A3 gene are described every day: indeed, five novel gene mutations have recently been reported [138]. Chronic Pi urinary loss leads to suppression of FGF23, calcitriol, and PTH secretion, with a consequent increase in Ca absorption in the gut and into secondary hypercalciuria, the hallmark of HHRH.…”

Section: Hereditary Hypophosphatemic Rickets With Hypercalciuria (Hhrh)mentioning

confidence: 99%

Rickets in Children: An Update

Gentile

Chiarelli

2021

Biomedicines

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Rickets refers to a deficient mineralization of the growth plate cartilage, predominantly affecting longer bones. Despite the fact that preventive measures are available, it is still a common disease worldwide; nutritional rickets, due to vitamin D deficiency or dietary calcium inadequate intake, remains the most common form. Medical history, physical examination, radiologic features and biochemical tests are essential for diagnosis. Although recent studies suggest hypophosphatemia as the leading alteration, rickets is classically divided into two categories: calcipenic rickets and phosphopenic rickets. Knowledge of this categorization and of respective clinical and laboratory features is essential for rapid diagnosis and correct management. The aim of this review is to analyze the epidemiological, pathogenetic, clinical, and therapeutic aspects of the different forms of rickets, describing the novelties on this “long-lived” disease.

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

Cited by 15 publications

References 8 publications

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency

Rickets in Children: An Update

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