Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

FGF23-induzierte hypophosphatämische Rachitis

Unter hypophosphatämischer Rachitis werden all jene Störungen des Posphatstoffwechsels zusammengefasst, die mit einer erhöhten Phosphatauscheidung einhergehen und zu einem Verlust der Hartsubstanz der Knochen führt. Der all diesen Störungen gemeinsae Wirkmechanismus ist die erhöhte Sekretion des phosphaturischen Hormons FGF23 (Phosphotonin).

Einteilung

Von der Hypophosphatämischen Rachitis unterscheiden wir dominante und rezessive Formen, die weiter nach den zugrundeliegenden genen unterteilt werden können.

G cluster0 cluster1 dominante HR cluster2 rezessive HR s0 Hypophosphataemische Rachitis HR a0 s0->a0 b0 s0->b0 a1 autosomal dominante HR FGF23 a2 X-chromosomal dominante HR PHEX b1 autosomal rezessive HR1 DMP1 b2 autosomal rezessive HR2 ENPP1
Einteilung der Hypophosphataemischen Rachitis

Gliederung

Hypophosphatämische Knochen- und Nierenerkrankung
FGF23-induzierte hypophosphatämische Rachitis
Autosomal dominante hypophosphatämische Rachitis
FGF23
Autosomal rezessive hypophosphatämische Rachitis Typ 1
DMP1
Autosomal rezessive hypophosphatämische Rachitis Typ 2
ENPP1
X-chromosomal dominante hypophosphatämische Rachitis
PHEX
Hypophosphatämische Rachitis mit Hyperparathyroidismus
Hypophosphatämische Rachitis vom Fanconi-Typ
Osteoglophone Dysplasie
Raine-Syndrome
Störungen der renalen Phosphattransporter
X-chromosomal dominante hypophosphatämische Rachitis

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OMIM.ORG article

Omim 241520 [^]
Update: 29. April 2019