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Die Folgen des Klimwandels haben einen direkten Einfluss auf die Primärversorgung in Deutschland: Hitzeschutz insbesondere bei älteren Patienten, die Zunahme von Infektionen und die Verlängerung der Allergiesesaison spielen medizinisch eine bedeutsame Rolle. Aber auch in der Prävention und der Aufklärung der Patienten kommt den Hausärztinnen und -ärzten eine besondere Rolle zu. Direkt aus der Praxis berichtet im Live-Webinar am 13. Mai von 18 bis 19 Uhr unser Experte Dr. med. Robin Maitra.
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Osteoporosis International
Erschienen in: Osteoporosis International 9/2018

20.06.2018 | Review

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

verfasst von: M. Chakhtoura, M.S. Ramnitz, N. Khoury, G. Nemer, N. Shabb, A. Abchee, A. Berberi, M. Hourani, M. Collins, S. Ichikawa, G. El Hajj Fuleihan

Erschienen in: Osteoporosis International | Ausgabe 9/2018

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Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation), they presented with variable severity and age of disease onset (at 4 years in patient 1 and at 23 years in patient 2). A review of the literature revealed several potential patho-physiologic pathways of HFTC clinical manifestations, some of which may be independent of hyperphosphatemia. Most available treatment options aim at reducing serum phosphate level, by stimulating renal excretion or by inhibiting intestinal absorption. HFTC is a challenging disease. While the available medical treatment has a limited and inconsistent effect on disease symptomatology, surgical resection of calcified masses remains the last resort. Research is needed to determine the safety and efficacy of FGF23 replacement or molecular therapy, targeting the specific genetic aberration. Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by recurrent calcified masses, in addition to other visceral, skeletal, and vascular manifestations. It remains a very challenging disease.
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Fußnoten
1
25(OH)D: 25-hydroxyvitamin D; 1;25(OH)2D: 1,25-dihydroxyviatmin D; AUB-MC: American University of Beirut–Medical Center; BMD: bone mineral density; CFGF23: C-terminal FGF23; CV: coefficient of variation; DXA: dual X-ray absorptiometry; FGF23: fibroblast growth factor 23; GFR: glomerular filtration rate; HFTC: hyperphosphatemic familial tumoral calcinosis; IL-1: interleukin–1; iFGF23: intact FGF23; NaPi2: type II sodium-dependent phosphate co-transporters; MMP: metalloproteinases; ppGalNacT3: polypeptide N-acetyl-galactosaminyl-transferase 3; RIA: radio-immunoassay; SD: standard deviation; TRP: tubular reabsorption of phosphate; TmP: tubular maximum reabsorption of phosphate; TRPV5: transient receptor potential vanilloid type 5 channel
 
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Metadaten
Titel
Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature
verfasst von
M. Chakhtoura
M.S. Ramnitz
N. Khoury
G. Nemer
N. Shabb
A. Abchee
A. Berberi
M. Hourani
M. Collins
S. Ichikawa
G. El Hajj Fuleihan
Publikationsdatum
20.06.2018
Verlag
Springer London
Erschienen in
Osteoporosis International / Ausgabe 9/2018
Print ISSN: 0937-941X
Elektronische ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-018-4574-x

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Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

07.05.2024 Klinik aktuell Nachrichten

Extreme Arbeitsverdichtung und kaum Supervision: Dr. Andrea Martini, Sprecherin des Bündnisses Junge Ärztinnen und Ärzte (BJÄ) über den Frust des ärztlichen Nachwuchses und die Vorteile des Rucksack-Modells.

Aquatherapie bei Fibromyalgie wirksamer als Trockenübungen

03.05.2024 Fibromyalgiesyndrom Nachrichten

Bewegungs-, Dehnungs- und Entspannungsübungen im Wasser lindern die Beschwerden von Patientinnen mit Fibromyalgie besser als das Üben auf trockenem Land. Das geht aus einer spanisch-brasilianischen Vergleichsstudie hervor.

Endlich: Zi zeigt, mit welchen PVS Praxen zufrieden sind

IT für Ärzte Nachrichten

Darauf haben viele Praxen gewartet: Das Zi hat eine Liste von Praxisverwaltungssystemen veröffentlicht, die von Nutzern positiv bewertet werden. Eine gute Grundlage für wechselwillige Ärztinnen und Psychotherapeuten.

Proximale Humerusfraktur: Auch 100-Jährige operieren?

01.05.2024 DCK 2024 Kongressbericht

Mit dem demographischen Wandel versorgt auch die Chirurgie immer mehr betagte Menschen. Von Entwicklungen wie Fast-Track können auch ältere Menschen profitieren und bei proximaler Humerusfraktur können selbst manche 100-Jährige noch sicher operiert werden.

Update Orthopädie und Unfallchirurgie

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