PMID- 7114660
OWN - NLM
STAT- MEDLINE
DCOM- 19821021
LR  - 20131121
IS  - 0003-410X (Print)
IS  - 0003-410X (Linking)
VI  - 133
IP  - 4
DP  - 1982
TI  - [Familial hypocalciuric hypercalcemia: two case reports (author's transl)].
PG  - 281-4
AB  - Two cases of familial hypocalciuric hypercalcemia (FHH) are reported with a 
      review of the literature. Both cases had hypercalcemia, hypophosphatemia, 
      variable parathormone (PTH) levels and hypocalciuria. The parathyroid glands were 
      only slightly hyperplastic and subtotal parathyroidectomy did not reduce the 
      hypercalcemia. FHH is an autosomal dominant congenital disease with high 
      penetrance. It is characterised by hypocalcemia. This contradictory biological 
      finding should alert the physician to the diagnosis and initiate a familial 
      enquiry. The serum PTH and urinary cyclical-AMP levels do not distinguish FHH 
      from primary hyperparathyroidism. Surgery is usually contraindicated because it 
      is ineffective and because the disease is usually benign. Semi-quantitative bone 
      histology in a patient with a high PTH level was normal. The value of bone biopsy 
      in these cases is discussed.
FAU - Sereni, D
AU  - Sereni D
FAU - Chevalier, P
AU  - Chevalier P
FAU - Cremer, G A
AU  - Cremer GA
FAU - Boissonnas, A
AU  - Boissonnas A
FAU - Dubost, C
AU  - Dubost C
FAU - Laroche, C
AU  - Laroche C
LA  - fre
PT  - English Abstract
PT  - Journal Article
TT  - L'hypercalcemie hypocalciurique familiale. A propos de deux observations.
PL  - France
TA  - Ann Med Interne (Paris)
JT  - Annales de medecine interne
JID - 0171744
RN  - 0 (Parathyroid Hormone)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Adolescent
MH  - Calcium/*urine
MH  - Female
MH  - Humans
MH  - Hypercalcemia/*genetics/pathology/physiopathology
MH  - Middle Aged
MH  - Parathyroid Hormone/blood
EDAT- 1982/01/01 00:00
MHDA- 1982/01/01 00:01
CRDT- 1982/01/01 00:00
PHST- 1982/01/01 00:00 [pubmed]
PHST- 1982/01/01 00:01 [medline]
PHST- 1982/01/01 00:00 [entrez]
PST - ppublish
SO  - Ann Med Interne (Paris). 1982;133(4):281-4.