PMID- 6543841
OWN - NLM
STAT- MEDLINE
DCOM- 19851105
LR  - 20131121
IS  - 0018-022X (Print)
IS  - 0018-022X (Linking)
VI  - 39
IP  - 2
DP  - 1984 May
TI  - Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to 
      related parents with familial hypocalciuric hypercalcemia.
PG  - 171-86
AB  - We describe a study of a boy with neonatal severe primary hyperparathyroidism 
      (NSPHP) and alkaptonuria born to related parents of Turkish origin. The clinical 
      and chemical courses (e.g. of mineral metabolism, of urinary excretion of amino 
      acids and collagen metabolites) in response to various therapeutic approaches 
      including total parathyroidectomy (PTX) are reported. Urinary excretion of 
      calcium was unusually low before and immediately after PTX, and later during an 
      inadvertent vitamin D intoxication. It corresponded to values typical for 
      patients with familial hypocalciuric hypercalcemia (FHH), an autosomal dominant 
      disorder. Both parents and one sibling had episodes of hypercalcemia with 
      inappropriately high parathormone levels; in the father there was also relative 
      hypocalciuria consistent with FHH. On the basis of the genetic and 
      pathophysiologic data reported here, we speculate that homozygosity for the 
      'FHH-gene' is the cause of the life-threatening manifestation of NSPHP, whereas 
      heterozygosity for the same gene leads to FHH, by comparison a mild disorder. The 
      association of the two very rare recessively transmitted disorders, alkaptonuria 
      and NSPHP, is unique; close linkage of the two genes, one coding for homogentisic 
      acid oxidase, the other for the unknown gene product defective in NSPHP, can be 
      suspected.
FAU - Steinmann, B
AU  - Steinmann B
FAU - Gnehm, H E
AU  - Gnehm HE
FAU - Rao, V H
AU  - Rao VH
FAU - Kind, H P
AU  - Kind HP
FAU - Prader, A
AU  - Prader A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Helv Paediatr Acta
JT  - Helvetica paediatrica acta
JID - 0373005
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Alkaptonuria/*complications
MH  - Calcium/urine
MH  - Consanguinity
MH  - Genes, Recessive
MH  - Genetic Linkage
MH  - Homozygote
MH  - Humans
MH  - Hypercalcemia/genetics
MH  - Hyperparathyroidism/*complications/genetics
MH  - Infant, Newborn
MH  - Male
EDAT- 1984/05/01 00:00
MHDA- 1984/05/01 00:01
CRDT- 1984/05/01 00:00
PHST- 1984/05/01 00:00 [pubmed]
PHST- 1984/05/01 00:01 [medline]
PHST- 1984/05/01 00:00 [entrez]
PST - ppublish
SO  - Helv Paediatr Acta. 1984 May;39(2):171-86.