PMID- 871127
OWN - NLM
STAT- MEDLINE
DCOM- 19770630
LR  - 20190626
IS  - 0002-9343 (Print)
IS  - 0002-9343 (Linking)
VI  - 62
IP  - 5
DP  - 1977 May
TI  - Family studies in patients with primary parathyroid hyperplasia.
PG  - 698-706
AB  - The relatives of 25 index patients with primary parathyroid hyperplasia were 
      tested for hypercalcemia. At least 13 of these patients had one or more first 
      degree relatives with hypercalcemia. Two familial syndromes each with autosomal 
      dominant transmission were recognized. Two index patients were part of large 
      kindreds categorized as having familial hypocalciuric hypercalcemia (FHH). 
      Manifestations of multiple endocrine neoplasia type I were present in the 
      kindreds of at least four other index patients (FMEN I). In seven other kindreds 
      there were too few affected members to allow definitive classification. 
      Differences between manifestations of FHH and FMEN I were described. Among 
      offspring of affected persons in kindreds with FHH, as distinct from FMEN I, the 
      prevalence of hypercalcemia approached the theoretic maximum of 50 per cent 
      during the first two decades. In FHH, nephrolithiasis and peptic disease were 
      unusual; moderate hypercalcemia occurred without hypercalciuria; and subtotal 
      parathyroidectomy did not abolish hypercalcemia. Concentrations of peptide 
      hormones other than parathyroid hormone (PTH) were normal in those with FHH; in 
      FMEN I high concentrations of glucagon in plasma were found in five of six 
      patients tested, and high concentrations of gastrin were found in three of 12 
      patients. Hypergastrinemia generally accompanied obvious peptic disease. 
      Distinction of the two conditions is important since patients with FHH may not 
      benefit from subtotal parathyroidectomy, but they generally have a better 
      clinical prognosis than do patients with FMEN I.
FAU - Marx, S J
AU  - Marx SJ
FAU - Spiegel, A M
AU  - Spiegel AM
FAU - Brown, E M
AU  - Brown EM
FAU - Aurbach, G D
AU  - Aurbach GD
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med
JT  - The American journal of medicine
JID - 0267200
RN  - 0 (Gastrins)
RN  - 0 (Parathyroid Hormone)
RN  - 9002-62-4 (Prolactin)
RN  - 9007-92-5 (Glucagon)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Calcium/blood
MH  - Child
MH  - Female
MH  - Gastrins/blood
MH  - Glucagon/blood
MH  - Humans
MH  - Hypercalcemia/genetics
MH  - Hyperplasia/blood/genetics/surgery
MH  - Male
MH  - Middle Aged
MH  - Neoplasms, Multiple Primary/genetics
MH  - Parathyroid Glands/*pathology/surgery
MH  - Parathyroid Hormone/blood
MH  - Parathyroid Neoplasms/blood/*genetics/surgery
MH  - Pedigree
MH  - Prolactin/blood
EDAT- 1977/05/01 00:00
MHDA- 1977/05/01 00:01
CRDT- 1977/05/01 00:00
PHST- 1977/05/01 00:00 [pubmed]
PHST- 1977/05/01 00:01 [medline]
PHST- 1977/05/01 00:00 [entrez]
AID - 0002-9343(77)90873-7 [pii]
AID - 10.1016/0002-9343(77)90873-7 [doi]
PST - ppublish
SO  - Am J Med. 1977 May;62(5):698-706. doi: 10.1016/0002-9343(77)90873-7.