Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyperparathyreoidismus

Der Hyperparathyreoidismus ist definiert durch einen abnormal erhöhten Plasmaspiegel an Parathormon (PTH). Die Ursache ist eine Überfunktion von einer der vier Epithelkörperchen oder eine ektope Hormonproduktion.

Differentialdiagnostische Abgrenzung

Wir unterscheiden primären, sekundären und tertiären Hyperparathyreoidismus. Nur die primäre Form kann durch die Mutation eines einzelnen Gens hervorgerufen ein. Der sekundäre Hyperparathyreoidismus resultiert aus einer anhaltenden Stimulation der Nebenschilddrüse aufgrund bei Hypocalciämie oder Vitamin D Mangel. Eine genetische Disposition könnte für die Ausbildung eines sekundären Hyperparathyreoidismus von Bedeutung sein. Das selbe gilt insbesondere für den tertiären Hyperparathyreoidismus, bei welchem es auf Grund eines anhaltenden sekundären Hyperparathyreoidismus zu einer Autonomie der Nebenschilddrüse kommt.

Gliederung

Erkrankungen der Nebenschilddrüse
Humorale paraneoplastische Hypercalciämie
Hyperparathyreoidismus
AP2S1
CASR
CDC73
Familiärer isolierter Hyperparathyreoidismus
GCM2
GNA11
Hypoparathyreoidismus
Karzinom der Nebenschilddrüse
Pseudohyperparathyreoidismus
Pseudohypoparathyreoidismus

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2.

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48.

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49.

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50.

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51.

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52.

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53.

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