Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Störungen des Phosphathaushaltes

Störunngen des Phosphathaushaltes umfassen Erkrankungen mit Hyper und Hypophosphatämie. In ersterem Falle liegen massive renale Phosphatverluste vor (Phosphatdiabetes) und die Folge sind Störungen in der Hartsubstanz der Knochen (Rachitis, Osteomalazie, Osteoporose und Osteoglophonie). Im zweiten Falle funktioniert die renale Ausscheidung nicht so optimal dass es zu einer Phosphatretention kommt. Diese führt dann zu Knochenverönderungen im Sinne einer vermehrten Hartsubstanz (Osteopetrose) oder subperiostalen Verkalkungen. Es kann aber auch zu extraossären Verkalkungen (Calcinose) kommen.

Pathogenese

Das Flussdiagramm verdeutlicht den normalen Phosphatstoffwechsel, der für eine Stabilisierung des Phosphathaushaltes führt (Homöostase). In unserer Nahrung nehmen wir Phosphat im Überschuss auf. Das überschüssige Phosphat wird vor allem renal ausgeschieden. Mit der Menge des in der Niere zurück gewonnenen Phosphates wird die Phosphathomöostase gesteuert. Da bei einer normalen Ernährung etwa 80% des fitrierten Phosphates rückresorbiert wird bleibt normalerweise ein weiter regulatorisher Spielraum die Homöostase mit unterschiedlichem Phosphatangebot in der Nahrung konstant zu halten.

Phosphat-Stoffwechsel

Da die renale Reabsorption der wichtigste Kontrollpunkt der Phosphathomöostase ist, greifen auch hier die meisten Regulationsmechanismen. Hemmend auf die Rückresorption und damit zu einer verstärkten renalen Ausscheidung führend wirken die in der Grafik rot markierten Mechanismen. Die Störung Störungen dieser Regulationsmechanismen müssen entweder zu excessiven Phosphatverlusten oder zu übermäßiger Phosphatretention führen.

Management

Weil Hypo- und Hyperphosphatämie unterschiedlichen behandelt werden, ist das Management in den entsprechenden Abschnitten abgehandelt.

Gliederung

Erbliche Stoffwechselerkrankungen
Acoeruloplasminämie/Hypocoeruloplasminämie
Coenzym Q10-Mangel
Erbliche Fettstoffwechselerkrankungen
Genetisch bedingte Hyperbilirubinämie
Glycolipidose
HADH-Mangel
Hypomagnesiämie
Hypomethylierungs-Syndrom
Kongenitale Glykosilierungsstörung
Lebensmittelunverträglichkeiten
Lysosomale Speicherkrankheiten
MELAS-Syndrom
Methioninadenosyltransferase-Mangel
Störungen des Cobalaminstoffwechsels
Störungen des Eisenstoffwechsels
Störungen des Glucosestoffwechsels
Störungen des Harnstoffzyklus
Störungen des Harnsäurestoffwechsels
Störungen des Phosphathaushaltes
Hyperphosphatämische familiäre Tumorcalcinose
FGF23
GALNT3
KL
Hypophosphatasie
Adulte Hypophosphatasie
ALPL
Infantile Hypophosphatasie
ALPL
Kindliche Hypophosphatasie
ALPL
Odontohypophosphatasie
ALPL
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
KL
Hypophosphatämische Rachitis vom Fanconi-Typ
Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 1
SLC34A1
X-chromosomale hypophosphatämische Rachitis
CLCN5
OCRL
Osteoglophone Dysplasie
FGFR1
Raine-Syndrome
FAM20C
Störungen der renalen Phosphattransporter
Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 1
SLC34A1
Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 2
SLC9A3R1
Hypophosphatämische Rachitis mit Hypercalciurie
SLC34A3
Idiopathische Kalzifikation der Basalganglien 1
SLC20A2

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