Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Renale Störungen der Calciumhomöostase

Eine Reihe von renalen Erkrankungen betreffen den Calciumstoffwechsel. Störungen der Tubulusfunktion können zu erhöhten und erniedrigten Calciumwerten im Blut führen. Meist sind Störungen des Caliumhaushaltes mit Störungen im Parathormonspiegel oder im Vitamin D-Stoffwechsel verknüpft.

Pathogenese

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Regulation der Calcium-Balance

Bei der Calcium-Balance spielt das Parathormon (PTH) eine entscheidende Rolle. Über den Calcium-Sensing-Rezeptor wird die aktuelle Serumkonzentration gemessen und die PTH-Sekretion entsprechend angepasst. Die Grafik zeigt über welche Mechanismen die extrazelluläre Calcium-Konzentration erhöht wird. Dazu gehören die renale Reabsorption und die Knochenresorption. Die vermehrte enterale Calcium-Absorption wird vor allem über eine Aktivierung von Vitamin D erreicht.

Gliederung

Hereditäre Tubulusfunktionsstörungen der Niere
Erbliche renale Salzverlust-Syndrome
Genetisch bedingte Störungen der proximalen Tubulusfunktion
Liddle-Syndrom
Pseudohypoaldosteronismus
Renale Störungen der Calciumhomöostase
Familiäre Tumorcalcinose
Familiäre hyperphosphatämische tumorale Kalzinose
FGF23
GALNT3
KL
Familiäre normophosphatämische tumorale Kalzinose
SAMD9
Familiäre hypocalciurische Hypercalciämie Typ 1
CASR
Familiäre hypocalciurische Hypercalciämie Typ 2
GNA11
Familiäre hypocalciurische Hypercalciämie Typ 3
AP2S1
Hypophosphatasie
Adulte Hypophosphatasie
ALPL
Infantile Hypophosphatasie
ALPL
Kindliche Hypophosphatasie
ALPL
Odontohypophosphatasie
ALPL
Infantile Hypercalciämie
CYP24A1
Renale tubuläre Azidose
Renaler Diabetes insipidus

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