PMID- 20578589
OWN - NLM
STAT- MEDLINE
DCOM- 20100826
LR  - 20100628
IS  - 0042-773X (Print)
IS  - 0042-773X (Linking)
VI  - 56
IP  - 5
DP  - 2010 May
TI  - [Familial hypercalcemia and hypophosphatemia: importance in differential 
      diagnosis of disorders in calcium-phosphate metabolism].
PG  - 397-401
AB  - Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary 
      diseases and are extraordinarily important from the standpoint of the 
      differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) 
      clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much 
      more serious neonatal hyperparathyreosis. Hypercalciuric hypocalcemia is 
      extremely rare. Prognosis for the most frequent mutations in the CaSR gene FHH is 
      considered benign; nevertheless, if overlooked it can lead to an incorrect 
      diagnosis of primary hyperparathyreosis, which has a fundamentally different 
      prognosis and treatment. Familial hypophosphatemia sometimes occurs as hereditary 
      rickets, which is a consequence of insufficient production of vitamin D-hormone 
      or abnormal function of vitamin D receptors (VDR). The disease manifests as 
      X-linked dominant hypophosphatemic rickets or autosomal dominant hypophosphatemic 
      rickets. Autosomal recessive form is very rare. Oncogenic hypophosphatemia should 
      be excluded in differential diagnosis. In this review the issues of pathogenesis, 
      differential diagnosis and treatment of FHH and hypophosphatemic rickets are 
      discussed.
FAU - Zofkova, I
AU  - Zofkova I
AD  - Endokrinologicky ustav Praha. izofkova@endo.cz
LA  - cze
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Familiarni hyperkalcemie a hypofosfatemie a jejich vyznam v diferencialni 
      diagnostice poruch kalcium-fosfatoveho metabolizmu.
PL  - Czech Republic
TA  - Vnitr Lek
JT  - Vnitrni lekarstvi
JID - 0413602
RN  - 0 (Calcium Phosphates)
RN  - 0 (Receptors, Calcium-Sensing)
SB  - IM
MH  - Calcium Phosphates/metabolism
MH  - Diagnosis, Differential
MH  - Humans
MH  - Hypercalcemia/*diagnosis/*genetics
MH  - Hyperparathyroidism/diagnosis/genetics
MH  - Hypophosphatemia, Familial/*diagnosis
MH  - Mutation
MH  - Receptors, Calcium-Sensing/genetics
RF  - 40
EDAT- 2010/06/29 06:00
MHDA- 2010/08/27 06:00
CRDT- 2010/06/29 06:00
PHST- 2010/06/29 06:00 [entrez]
PHST- 2010/06/29 06:00 [pubmed]
PHST- 2010/08/27 06:00 [medline]
PST - ppublish
SO  - Vnitr Lek. 2010 May;56(5):397-401.