Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Erkrankungen der Nebenschilddrüse

Die Nebenschilddrüse setzt sich aus 4 kleinen Epithelkörperchen zusammen, die sich unmittelbar hinter der Schilddrüse befinden. Das von dieser endokrinen Drüse gebildete Parathormon (PTH) ist insbesondere für die Stabilisierung des Calciumhaushaltes verantwortlich. Somit zeigen sich Störungen der Nebenschilddrüsenfunktion in einem zu niedrigen oder zu hohen PTH- oder Calciumspiegel. Sekundäre Folgen können Verluste der Knochensubstanz, Organverkalkungen oder Nierensteine sein.

Diagnosestellung

Die Diagnose wird durch die Bestimmung des Parathormons (PTH) und des Calcium im PLasma gestellt. In einigen Fällen kann auch die Bestimmung von Phosphat und Vitamin D-Metaboliten im Plasma und die renale Exkretion von Calcium und Phosphat nützlich sein.

Differentialdiagnostische Abgrenzung

Es wird ein Hypoparathyreoidismus mit inadäquat niedrigem und ein Hyperparathyreoidismus mit hohem Parathormonspiegel unterschieden. Ein inadequates Ansprechen des Rezeptors auf Parathormon wird als Pseudohypoparathyreoidismus bezeichnet.

Gliederung

Erbliche endokrinologische Erkrankungen
Autoimmune Polyendokrinopathie
Erkrankungen der Nebenschilddrüse
Humorale paraneoplastische Hypercalciämie
PTHLH
Hyperparathyreoidismus
AP2S1
CASR
CDC73
Familiärer isolierter Hyperparathyreoidismus
GCM2
GNA11
Hypoparathyreoidismus
AP2S1
CASR
GCM2
GNA11
HDR-Syndrom
GATA3
Hypoparathyreoidismus-Retardierung-Dysmorphismus-Syndrom
TBCE
Kenny-Caffey-Syndrom
TBCE
PTH
Karzinom der Nebenschilddrüse
CDC73
Pseudohyperparathyreoidismus
Murk-Jansen metaphyseale Chondrodysplasie
PTH1R
Pseudohypoparathyreoidismus
Albright-Osteodystrophie
GNAS
Pseudohypoparathyreoidismus Typ 1B
GNAS
STX16
Hereditärer Diabetes insipidus
Nierenerkrankungen mit endokrinologischer Manifestation
Phäochromozytom
Störungen der Regulation des Wachstums
Störungen des Schilddrüsenhormonsystems
Störungen des Steroidhormonsystems

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