PMID- 6312730
OWN - NLM
STAT- MEDLINE
DCOM- 19831123
LR  - 20190821
IS  - 0001-656X (Print)
IS  - 0001-656X (Linking)
VI  - 72
IP  - 4
DP  - 1983 Jul
TI  - Primary hyperparathyroidism in infancy associated with familial hypocalciuric 
      hypercalcemia.
PG  - 625-9
AB  - Clinical and biochemical evidence of primary hyperparathyroidism (prim. HPT) is 
      reported in an infant with hypotonia, feeding problems and constipation from 
      birth. Following a partial parathyroidectomy at the age of 12 months, the 
      clinical condition improved. In her sister, mother and three other maternal 
      relatives a familial hypocalciuric hypercalcemia (FHH) was subsequently 
      demonstrated. All were clinically healthy in spite of increased total and ionized 
      serum calcium, normal serum parathyroid hormone concentration, low urinary 
      calcium excretion and normal renal excretion of cyclic AMP. Similar findings 
      appeared in our patient after parathyroidectomy. An autosomal dominant 
      inheritance of FHH is suggested. It is thus demonstrated, that a mother with FHH 
      may give birth to healthy children with FHH as well as to infants with prim. HPT 
      associated with FHH.
FAU - Lillquist, K
AU  - Lillquist K
FAU - Illum, N
AU  - Illum N
FAU - Jacobsen, B B
AU  - Jacobsen BB
FAU - Lockwood, K
AU  - Lockwood K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Sweden
TA  - Acta Paediatr Scand
JT  - Acta paediatrica Scandinavica
JID - 0000211
RN  - 0 (Parathyroid Hormone)
RN  - 0 (Phosphates)
RN  - E0399OZS9N (Cyclic AMP)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Calcium/blood/*urine
MH  - Child
MH  - Cyclic AMP/urine
MH  - Female
MH  - Humans
MH  - Hypercalcemia/*complications/genetics
MH  - Hyperparathyroidism/*complications/genetics
MH  - Infant, Newborn
MH  - Infant, Newborn, Diseases/*genetics
MH  - Middle Aged
MH  - Parathyroid Glands/surgery
MH  - Parathyroid Hormone/blood
MH  - Pedigree
MH  - Phosphates/blood/urine
EDAT- 1983/07/01 00:00
MHDA- 1983/07/01 00:01
CRDT- 1983/07/01 00:00
PHST- 1983/07/01 00:00 [pubmed]
PHST- 1983/07/01 00:01 [medline]
PHST- 1983/07/01 00:00 [entrez]
AID - 10.1111/j.1651-2227.1983.tb09784.x [doi]
PST - ppublish
SO  - Acta Paediatr Scand. 1983 Jul;72(4):625-9. doi: 
      10.1111/j.1651-2227.1983.tb09784.x.