PMID- 37291366
OWN - NLM
STAT- MEDLINE
DCOM- 20230703
LR  - 20230703
IS  - 2731-698X (Electronic)
IS  - 2731-6971 (Linking)
VI  - 94
IP  - 7
DP  - 2023 Jul
TI  - [Special features of the diagnostics and treatment of hereditary primary 
      hyperparathyroidism].
PG  - 586-594
LID - 10.1007/s00104-023-01897-8 [doi]
AB  - Between 2% and 10% of patients with primary hyperparathyroidism (pHPT) are 
      diagnosed with hereditary forms of primary hyperparathyroidism (hpHPT). They are 
      more prevalent in younger patients before the age of 40 years, in patients with 
      persistence or recurrence of pHPT and pHPT patients with multi-glandular disease 
      (MGD). The various forms of hpHPT diseases can be classified into four syndromes, 
      i.e., hpHPT associated with diseases of other organ systems, and four diseases 
      that are confined to the parathyroid glands. Approximately 40% of patients with 
      hpHPT suffer from multiple endocrine neoplasia type 1 (MEN-1) or show germline 
      mutations of the MEN‑1 gene. Currently, germline mutations that lead to 
      a specific diagnosis in patients with hpHPT have currently been described in 
      13 different genes, which enables a clear diagnosis of the disease; however, 
      a clear genotype-phenotype correlation does not exist, even though the complete 
      loss of a coded protein (e.g. due to frame-shift mutations in the calcium sensing 
      receptor, CASR) often leads to more severe clinical consequences than merely a 
      reduced function of the protein (e.g. due to point mutation). As the various 
      hpHPT diseases require different treatment approaches, which do not correspond to 
      that of sporadic pHPT, a clear definition of the specific form of hpHPT must 
      always be strived for. Therefore, before surgery of a pHPT with clinical, imaging 
      or biochemical suspicion of hpHPT, genetic proof or exclusion of hpHPT is 
      necessary. The differentiated treatment approach for hpHTP can only be defined by 
      taking the clinical and diagnostic results of all the abovenamed findings into 
      account.
CI  - (c) 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, 
      ein Teil von Springer Nature.
FAU - Mogl, Martina T
AU  - Mogl MT
AD  - Chirurgische Klinik, Charite Campus Mitte/Campus Virchow-Klinikum, Berlin, 
      Charite-Universitatsmedizin Berlin, corporate member of Freie Universitat Berlin 
      und Humboldt-Universitat zu Berlin, Chariteplatz 1, 10117, Berlin, Deutschland. 
      martina.mogl@charite.de.
FAU - Goretzki, Peter E
AU  - Goretzki PE
AD  - Chirurgische Klinik, Charite Campus Mitte/Campus Virchow-Klinikum, Berlin, 
      Charite-Universitatsmedizin Berlin, corporate member of Freie Universitat Berlin 
      und Humboldt-Universitat zu Berlin, Chariteplatz 1, 10117, Berlin, Deutschland.
LA  - ger
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Besonderheiten in Diagnostik und Therapie des hereditaren primaren 
      Hyperparathyreoidismus.
DEP - 20230608
PL  - Germany
TA  - Chirurgie (Heidelb)
JT  - Chirurgie (Heidelberg, Germany)
JID - 9918383081906676
SB  - IM
MH  - Humans
MH  - *Hyperparathyroidism, Primary/diagnosis/genetics/therapy
MH  - *Multiple Endocrine Neoplasia Type 1/diagnosis/genetics/therapy
MH  - Parathyroid Glands
OTO - NOTNLM
OT  - Familial hypocalciuric hypercalcemia
OT  - Genotype-phenotype correlation
OT  - Germline mutations
OT  - Hyperparathyroidism-jaw tumor syndrome
OT  - Multiple endocrine neoplasia
EDAT- 2023/06/09 01:09
MHDA- 2023/07/03 06:41
CRDT- 2023/06/08 23:29
PHST- 2023/05/08 00:00 [accepted]
PHST- 2023/07/03 06:41 [medline]
PHST- 2023/06/09 01:09 [pubmed]
PHST- 2023/06/08 23:29 [entrez]
AID - 10.1007/s00104-023-01897-8 [pii]
AID - 10.1007/s00104-023-01897-8 [doi]
PST - ppublish
SO  - Chirurgie (Heidelb). 2023 Jul;94(7):586-594. doi: 10.1007/s00104-023-01897-8. 
      Epub 2023 Jun 8.