A natural history study of generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets (ARHR2) due to ENPP1 or ABCC6 deficiency: interim analysis

2019 ◽  
Author(s):  
Yvonne Nitschke ◽  
Kristina Kintzinger ◽  
Mary Hackbarth ◽  
Ulrike Botschen ◽  
Sisi Wang ◽  
...  
Keyword(s):  
Natural History ◽  
Interim Analysis ◽  
Autosomal Recessive ◽  
Hypophosphatemic Rickets ◽  
Arterial Calcification ◽  
Natural History Study ◽  
Autosomal Recessive Hypophosphatemic Rickets

scholarly journals Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice

Endocrinology ◽  
2012 ◽  
Vol 153 (12) ◽  
pp. 5906-5917 ◽  
Author(s):  
Andrew C. Karaplis ◽  
Xiuying Bai ◽  
Jean-Pierre Falet ◽  
Carolyn M. Macica
Keyword(s):  
Standard Therapy ◽  
Autosomal Recessive ◽  
Fibroblast Growth Factor 23 ◽  
Hypophosphatemic Rickets ◽  
Phex Gene ◽  
Dentin Matrix ◽  
Insertion Sites ◽  
Autosomal Recessive Hypophosphatemic Rickets ◽  
The Impact ◽  
Inactivating Mutations

Abstract We have previously confirmed a paradoxical mineralizing enthesopathy as a hallmark of X-linked hypophosphatemia. X-linked hypophosphatemia is the most common of the phosphate-wasting disorders mediated by elevated fibroblast growth factor 23 (FGF23) and occurs as a consequence of inactivating mutations of the PHEX gene product. Despite childhood management of the disease, these complications of tendon and ligament insertion sites account for a great deal of the disease's morbidity into adulthood. It is unclear whether the enthesopathy occurs in other forms of renal phosphate-wasting disorders attributable to high FGF23 levels. Here we describe two patients with autosomal recessive hypophosphatemic rickets due to the Met1Val mutation in dentin matrix acidic phosphoprotein 1 (DMP1). In addition to the biochemical and skeletal features of long-standing rickets with elevated FGF23 levels, these individuals exhibited severe, debilitating, generalized mineralized enthesopathy. These data suggest that enthesophytes are a feature common to FGF23-mediated phosphate-wasting disorders. To address this possibility, we examined a murine model of FGF23 overexpression using a transgene encoding the secreted form of human FGF23 (R176Q) cDNA (FGF23-TG mice). We report that FGF23-TG mice display a similar mineralizing enthesopathy of the Achilles and plantar facial insertions. In addition, we examined the impact of standard therapy for phosphate-wasting disorders on enthesophyte progression. We report that fibrochondrocyte hyperplasia persisted in Hyp mice treated with oral phosphate and calcitriol. In addition, treatment had the untoward effect of further exacerbating the mineralization of fibrochondrocytes that define the bone spur of the Achilles insertion. These studies support the need for newer interventions targeted at limiting the actions of FGF23 and minimizing both the toxicities and potential morbidities associated with standard therapy.

scholarly journals Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

Bone ◽  
2009 ◽  
Vol 44 (2) ◽  
pp. 287-294 ◽  
Author(s):  
Emily G. Farrow ◽  
Siobhan I. Davis ◽  
Leanne M. Ward ◽  
Lelia J. Summers ◽  
Judith S. Bubbear ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Autosomal Recessive ◽  
Hypophosphatemic Rickets ◽  
Autosomal Recessive Hypophosphatemic Rickets

scholarly journals Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

2010 ◽  
Vol 86 (2) ◽  
pp. 273-278 ◽  
Author(s):  
Varda Levy-Litan ◽  
Eli Hershkovitz ◽  
Luba Avizov ◽  
Neta Leventhal ◽  
Dani Bercovich ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Hypophosphatemic Rickets ◽  
Enpp1 Gene ◽  
Autosomal Recessive Hypophosphatemic Rickets

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Elisabeth Steichen-Gersdorf ◽  
Bettina Lorenz-Depiereux ◽  
Tim Matthias Strom ◽  
Nicholas J. Shaw
Keyword(s):  
Hearing Loss ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Hypophosphatemic Rickets ◽  
Loss Of Function ◽  
Rare Form ◽  
Nucleotide Pyrophosphatase ◽  
Renal Tubular ◽  
Autosomal Recessive Hypophosphatemic Rickets

AbstractAutosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (

scholarly journals Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) due to ENPP1-deficiency

Bone ◽  
2021 ◽  
pp. 116111
Author(s):  
Jakob Höppner ◽  
Uwe Kornak ◽  
Kathrin Sinningen ◽  
Frank Rutsch ◽  
Ralf Oheim ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Hypophosphatemic Rickets ◽  
Autosomal Recessive Hypophosphatemic Rickets
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