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Tytuł pozycji:

Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.

Tytuł :
Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.
Autorzy :
Shah, Anuja
Miller, Clinton J.
Nast, Cynthia C.
Adams, Mark D.
Truitt, Barbara
Tayek, John A.
Tong, Lili
Mehtani, Parag
Monteon, Francisco
Sedor, John R.
Clinkenbeard, Erica L.
White, Kenneth
Mehrotra, Rajnish
LaPage, Janine
Dickson, Patricia
Adler, Sharon G.
Iyengar, Sudha K.
Pokaż więcej
Temat :
FIBROBLAST growth factors
NUCLEOTIDE sequencing
Źródło :
Nephrology Dialysis Transplantation; Dec2014, Vol. 29 Issue 12, p2235-2243, 9p, 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 3 Charts, 1 Graph
Czasopismo naukowe
…without FGF23, the kidney, replete with all other phosphaturic hormones and intrinsic phosphate sensing, is incapacitated to excrete phosphate adequately; i.e. the redundancy is insufficient…Background Tumoral calcinosis is an autosomal recessive disorder characterized by ectopic calcification and hyperphosphatemia. Methods We describe a family with tumoral calcinosis requiring amputations. The predominant metabolic anomaly identified in three affected family members was hyperphosphatemia. Biochemical and phenotypic analysis of 13 kindred members, together with exome analysis of 6 members, was performed. Results We identified a novel Q67K mutation in fibroblast growth factor 23 (FGF23), segregating with a null (deletion) allele on the other FGF23 homologue in three affected members. Affected siblings had high circulating plasma C-terminal FGF23 levels, but undetectable intact FGF23 or N-terminal FGF23, leading to loss of FGF23 function. Conclusions This suggests that in human, as in experimental models, severe prolonged hyperphosphatemia may be sufficient to produce bone differentiation proteins in vascular cells, and vascular calcification severe enough to require amputation. Genetic modifiers may contribute to the phenotypic variation within and between families. [ABSTRACT FROM AUTHOR]
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