Disorders of the calcium sensing signaling pathway
- 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.
| Author: | Jakob HöppnerORCiDGND, Kathrin SinningenORCiDGND, Adalbert RaimannORCiDGND, Barbara Obermayer-PietschORCiDGND, Corinna GrasemannORCiDGND |
|---|---|
| URN: | urn:nbn:de:hbz:294-102082 |
| DOI: | https://doi.org/10.3390/jcm11092595 |
| Parent Title (English): | Journal of clinical medicine |
| Subtitle (English): | from familial hypocalciuric hypercalcemia (FHH) to life threatening conditions in infancy |
| Publisher: | MDPI |
| Place of publication: | Basel |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 2023/08/23 |
| Date of first Publication: | 2022/05/05 |
| Publishing Institution: | Ruhr-Universität Bochum, Universitätsbibliothek |
| Tag: | Open Access Fonds calcium sensing receptor (CaSR); cinacalcet; familial hypocalciuric hypercalcemia (FHH); neonatal hyperparathyroidism (NHPT); neonatal severe hyperparathyroidism (NSHPT) |
| Volume: | 11 |
| Issue: | 9, Artikel 2595 |
| First Page: | 2595-1 |
| Last Page: | 2595-10 |
| Note: | Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum. |
| Institutes/Facilities: | St. Josef-Hospital Bochum, Klinik für Kinder- und Jugendmedizin, CeSER - Centrum für Seltene Erkrankungen |
| Dewey Decimal Classification: | Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit |
| open_access (DINI-Set): | open_access |
| faculties: | Medizinische Fakultät |
| Licence (English): |  Creative Commons - CC BY 4.0 - Attribution 4.0 International |
