PMID- 12412776
OWN - NLM
STAT- MEDLINE
DCOM- 20030513
LR  - 20190607
IS  - 0884-0431 (Print)
IS  - 0884-0431 (Linking)
VI  - 17 Suppl 2
DP  - 2002 Nov
TI  - Hyperparathyroidism in hereditary syndromes: special expressions and special 
      managements.
PG  - N37-43
AB  - Hyperparathyroidism (HPT) in its hereditary variants assumes special forms, has 
      special associations, and requires special managements. Familial hypocalciuric 
      hypercalcemia (FHH or FBHH) and neonatal severe primary hyperparathyroidism 
      (NSHPT) reflect heterozygous or homozygous mutations, respectively, in the 
      calcium-sensing receptor. FHH and NSHPT represent the mildest and severest 
      variants of HPT. Both cause hypercalcemia from birth and atypical HPT that always 
      and uniquely persists after subtotal parathyroidectomy. Their HPT is likely 
      polyclonal and nonneoplastic. In contrast, mono- or oligo-clonal parathyroid 
      neoplasia underlays most other HPT variants: multiple endocrine neoplasia type 1 
      (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and hyperparathyroidism-jaw 
      tumor syndrome (HPT-JT). Familial-isolated HPT combines several diagnoses, 
      including occult forms of the above syndromes. Each neoplastic variant has tumors 
      in multiple parathyroids and a delayed, but still early age of onset for HPT 
      (average age, 25-35 years). Each justifies special and similar approaches to 
      parathyroidectomy: typically, identification of four glands, subtotal 
      parathyroidectomy, rapid intraoperative parathyroid hormone (PTH) assays, and 
      parathyroid cryopreservation. Outcomes of parathyroidectomy remain suboptimal in 
      each. Each syndrome of parathyroid neoplasia associates with characteristic 
      cancer(s): enteropancreatic neuroendocrine or foregut carcinoid tissues (MEN1), 
      thyroidal C cells (MEN2A), or parathyroid (HPT-JT). HPT has promoted gene 
      discovery more through its rare hereditary variants than through common adenoma; 
      the main genes causing four of six hereditary variants are known. The RET 
      mutation test became essential in management of MEN2A. The MEN1 test is less 
      urgent, because it rarely guides a major patient benefit. The CASR test, perhaps 
      least urgent, has largely been unavailable. Further progress in molecular 
      genetics will enhance understandings, diagnosis, and therapy of HPT.
FAU - Marx, Stephen J
AU  - Marx SJ
AD  - Metabolic Diseases Branch, National Institute of Diabetes and Digestive and 
      Kidney Diseases, Bethesda, Maryland 20892-1802, USA.
FAU - Simonds, William F
AU  - Simonds WF
FAU - Agarwal, Sunita K
AU  - Agarwal SK
FAU - Burns, A Lee
AU  - Burns AL
FAU - Weinstein, Lee S
AU  - Weinstein LS
FAU - Cochran, Craig
AU  - Cochran C
FAU - Skarulis, Monica C
AU  - Skarulis MC
FAU - Spiegel, Allen M
AU  - Spiegel AM
FAU - Libutti, Steven K
AU  - Libutti SK
FAU - Alexander, H Richard Jr
AU  - Alexander HR Jr
FAU - Chen, Clara C
AU  - Chen CC
FAU - Chang, Richard
AU  - Chang R
FAU - Chandrasekharappa, Settara C
AU  - Chandrasekharappa SC
FAU - Collins, Francis S
AU  - Collins FS
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - J Bone Miner Res
JT  - Journal of bone and mineral research : the official journal of the American 
      Society for Bone and Mineral Research
JID - 8610640
RN  - 0 (Drosophila Proteins)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Ret protein, Drosophila)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Calcium/urine
MH  - *Drosophila Proteins
MH  - Genetic Diseases, Inborn/*complications
MH  - Heterozygote
MH  - Humans
MH  - Hypercalcemia/complications/diagnosis/genetics
MH  - Hyperparathyroidism/*etiology/*therapy
MH  - Infant, Newborn
MH  - Infant, Newborn, Diseases
MH  - Jaw Neoplasms/complications/genetics
MH  - Multiple Endocrine Neoplasia Type 1/complications/genetics
MH  - Multiple Endocrine Neoplasia Type 2a/complications/genetics
MH  - Mutation
MH  - Neoplasm Proteins/genetics
MH  - Parathyroidectomy
MH  - Proto-Oncogene Proteins/genetics
MH  - Proto-Oncogene Proteins c-ret
MH  - Receptor Protein-Tyrosine Kinases/genetics
RF  - 31
EDAT- 2002/11/05 04:00
MHDA- 2003/05/14 05:00
CRDT- 2002/11/05 04:00
PHST- 2002/11/05 04:00 [pubmed]
PHST- 2003/05/14 05:00 [medline]
PHST- 2002/11/05 04:00 [entrez]
PST - ppublish
SO  - J Bone Miner Res. 2002 Nov;17 Suppl 2:N37-43.