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Erschienen in: Journal für Mineralstoffwechsel & Muskuloskelettale Erkrankungen 2/2019

13.03.2019 | Originalien

Familiäre hypocalciurische Hypercalcämie – aktuelle Diagnostik und Therapie 2019

verfasst von: Prof. Dr. med. Friedhelm Raue, Christine Haag, Egbert Schulze, Karin Frank-Raue

Erschienen in: Journal für Mineralstoffwechsel & Muskuloskelettale Erkrankungen | Ausgabe 2/2019

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Zusammenfassung

Die familiäre hypocalciurische Hypercalcämie (FHH1) ist ein autosomal-dominant vererbtes Leiden bedingt durch eine inaktivierende Mutation im Calcium-sensing-Rezeptor (CaSR) mit lebenslang bestehender Hypercalcämie und relativer Hypocalciurie. Seltener findet man heterozygote Mutationen im GNA11-Gen (FHH2) oder eine Mutation im AP2S1-Gen (FHH3). Das Parathormon ist inadäquat hoch gemessen am Calcium als Ausdruck der PTH-Resistenz. Der Phänotyp ist asymptomatisch, selten findet man Nierensteine. Der Schlüssel zur Diagnose ist der Calcium/Creatinin-Clearancequotient unter 0,01. Patienten mit FHH werden gelegentlich als Patienten mit asymptomatischem primärem Hyperparathyreoidismus (pHpt) fehldiagnostiziert und parathyreoidektomiert, der Serumcalciumspiegel bleibt jedoch erhöht. Die molekulargenetische Analyse des CaSR erlaubt die wichtige Differenzialdiagnose zum pHpt. Das seltene und lebensbedrohliche Syndrom des neonatalen schweren Hyperparathyreoidismus (NSHPT) mit ausgeprägter Hypercalcämie ist durch eine homozygote Mutation im CaSR bedingt und bedarf gegebenenfalls einer notfallmäßigen totalen Parathyreoidektomie. Symptomatische Patienten mit FHH können mit Calcimimetika behandelt werden.
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Metadaten
Titel
Familiäre hypocalciurische Hypercalcämie – aktuelle Diagnostik und Therapie 2019
verfasst von
Prof. Dr. med. Friedhelm Raue
Christine Haag
Egbert Schulze
Karin Frank-Raue
Publikationsdatum
13.03.2019
Verlag
Springer Vienna
Erschienen in
Journal für Mineralstoffwechsel & Muskuloskelettale Erkrankungen / Ausgabe 2/2019
Print ISSN: 2412-8260
Elektronische ISSN: 2412-8287
DOI
https://doi.org/10.1007/s41970-019-0066-5

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