PMID- 21697018
OWN - NLM
STAT- MEDLINE
DCOM- 20120116
LR  - 20110902
IS  - 1579-2021 (Electronic)
IS  - 1575-0922 (Linking)
VI  - 58
IP  - 7
DP  - 2011 Aug-Sep
TI  - [Usefulness of genetic tests in familial hypocalciuric hypercalcemia with 
      atypical clinical presentation].
PG  - 325-30
LID - 10.1016/j.endonu.2011.04.004 [doi]
AB  - OBJECTIVES: Biochemical tests related to calcium and phosphorus metabolism have 
      traditionally been considered as a reliable tool to differentiate familial 
      hypocalciuric hypercalcemia (FHH) from primary hyperparathyroidism (PHPT). 
      However, diagnosis may sometimes be difficult even for experienced clinicians. 
      Our objective was to assess the accuracy of diagnostic tests in FHH and the 
      circumstances in which genetic studies are required. PATIENTS AND METHODS: A 
      descriptive study was conducted of two families with hypercalcemia and suspected 
      atypical FHH. Urinary calcium excretion was measured in 24-hour urine using 
      different tests (calcium excretion (CE), urinary calcium/creatinine clearance 
      ratio (UCCR)), and serum PTH and 25-hydroxyvitamin D levels were tested. Index 
      cases underwent genetic study. RESULTS: One patient from the first family showed 
      overt, persistent hypercalciuria with values more consistent with PHPT than with 
      FHH if we consider, as proposed by guidelines, a UCCR lower than 0.01 as 
      diagnostic of FHH and a value higher than 0.02 as diagnostic of PHPT. The index 
      case of the second family underwent surgery for a parathyroid adenoma. Both cases 
      had a mutation c. 164C>T (Pro55Leu) in exon 2 in heterozygosis. CONCLUSIONS: 
      According to current clinical guidelines, definitive diagnosis of FHH requires 
      genetic confirmation, which allowed in our case for detection of two families 
      with FHH and atypical clinical presentations. We think that rational use of 
      genetic tests may avoid unnecessary surgery and excess monitoring costs.
CI  - Copyright (c) 2011 SEEN. Published by Elsevier Espana. All rights reserved.
FAU - Fernandez Lopez, Ignacio
AU  - Fernandez Lopez I
AD  - Unidad de Gestion Clinica, Endocrinologia y Nutricion, Hospital Universitario 
      Virgen de Valme, Sevilla, Espana. idomingof@ono.com
FAU - Fernandez Pena, Ignacio
AU  - Fernandez Pena I
FAU - Cozar Leon, Maria Victoria
AU  - Cozar Leon MV
FAU - Viloria Penas, Maria Mar
AU  - Viloria Penas MM
FAU - Martinez De Pinillos Gordillo, Guillermo
AU  - Martinez De Pinillos Gordillo G
FAU - Fernandez-Ladreda, Mariana Tome
AU  - Fernandez-Ladreda MT
FAU - Duran Garcia, Santiago
AU  - Duran Garcia S
LA  - spa
PT  - English Abstract
PT  - Journal Article
TT  - Utilidad del estudio genetico en la hipercalcemia hipocalciurica familiar en 
      familias con presentaciones clinicas atipicas.
DEP - 20110621
PL  - Spain
TA  - Endocrinol Nutr
JT  - Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y 
      Nutricion
JID - 100886482
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Adult
MH  - Female
MH  - *Genetic Testing
MH  - Humans
MH  - Hypercalcemia/*congenital/diagnosis/genetics
MH  - Male
EDAT- 2011/06/24 06:00
MHDA- 2012/01/17 06:00
CRDT- 2011/06/24 06:00
PHST- 2011/01/25 00:00 [received]
PHST- 2011/04/07 00:00 [revised]
PHST- 2011/04/17 00:00 [accepted]
PHST- 2011/06/24 06:00 [entrez]
PHST- 2011/06/24 06:00 [pubmed]
PHST- 2012/01/17 06:00 [medline]
AID - S1575-0922(11)00190-2 [pii]
AID - 10.1016/j.endonu.2011.04.004 [doi]
PST - ppublish
SO  - Endocrinol Nutr. 2011 Aug-Sep;58(7):325-30. doi: 10.1016/j.endonu.2011.04.004. 
      Epub 2011 Jun 21.