Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Hoppner, J; Sinningen, K; Raimann, A; Obermayer-Pietsch, B; Grasemann, C.
Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy
J CLIN MED. 2022; 11(9): 2595
Doi: 10.3390/jcm11092595
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- Co-Autor*innen der Med Uni Graz
- Obermayer-Pietsch Barbara
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- Abstract:
- Familial hypocalciuric hypercalcemia (FHH) is a mostly benign condition of elevated calcium and PTH levels based on a hyposensitive calcium sensing receptor (CaSR) in FHH 1 or its downstream regulatory pathway in FHH2 and FHH3. In children, adolescents and young adults with FHH the main challenge is to distinguish the condition from primary hyperparathyroidism and thereby to avoid unnecessary treatments including parathyroidectomy. However, inheritance of FHH may result in neonatal hyperparathyroidism (NHPT) or neonatal severe hyperparathyroidism (NSHPT), conditions with high morbidity, and in the latter even high mortality. This review focuses on the genetic and pathophysiological framework that leads to the severe neonatal form, gives recommendations for counselling and summarizes treatment options.
- Find related publications in this database (Keywords)
- familial hypocalciuric hypercalcemia (FHH)
- calcium sensing receptor (CaSR)
- neonatal hyperparathyroidism (NHPT)
- neonatal severe hyperparathyroidism (NSHPT)
- cinacalcet