Familiäre hypocalciurische Hypercalcämie – aktuelle Diagnostik und Therapie 2019
作者： Friedhelm Raue , Christine Haag , Egbert Schulze , Karin Frank-Raue
DOI: 10.1007/S41970-019-0066-5
关键词:
摘要: Die familiare hypocalciurische Hypercalcamie (FHH1) ist ein autosomal-dominant vererbtes Leiden bedingt durch eine inaktivierende Mutation im Calcium-sensing-Rezeptor (CaSR) mit lebenslang bestehender und relativer Hypocalciurie. Seltener findet man heterozygote Mutationen GNA11-Gen (FHH2) oder AP2S1-Gen (FHH3). Das Parathormon inadaquat hoch gemessen am Calcium als Ausdruck der PTH-Resistenz. Der Phanotyp asymptomatisch, selten Nierensteine. Schlussel zur Diagnose Calcium/Creatinin-Clearancequotient unter 0,01. Patienten FHH werden gelegentlich asymptomatischem primarem Hyperparathyreoidismus (pHpt) fehldiagnostiziert parathyreoidektomiert, Serumcalciumspiegel bleibt jedoch erhoht. molekulargenetische Analyse des CaSR erlaubt die wichtige Differenzialdiagnose zum pHpt. seltene lebensbedrohliche Syndrom neonatalen schweren (NSHPT) ausgepragter homozygote bedarf gegebenenfalls einer notfallmasigen totalen Parathyreoidektomie. Symptomatische konnen Calcimimetika behandelt werden.
springer.com
sci-hub.se 参考文章(29)
WILLIAM M LAW, Familial Benign Hypercalcemia (Hypocalciuric Hypercalcemia) Annals of Internal Medicine. ,vol. 102, pp. 511- 519 ,(1985) , 10.7326/0003-4819-102-4-511
Karin Frank-Raue, Gudrun Leidig-Bruckner, Christine Haag, Egbert Schulze, Angela Lorenz, Hubertus Schmitz-Winnenthal, Friedhelm Raue, Inactivating calcium‐sensing receptor mutations in patients with primary hyperparathyroidism Clinical Endocrinology. ,vol. 75, pp. 50- 55 ,(2011) , 10.1111/J.1365-2265.2011.04059.X
Raphael Levey, Meryl Leboff, Linda Cooper, Edward Brown, Joseph Wertheimer, Robert Wilkinson, Constantine S. Anast, Severe Primary Hyperparathyroidism in a Neonate With Two Hypercalcemic Parents: Management With Parathyroidectomy and Heterotopic Autotransplantation Pediatrics. ,vol. 78, pp. 263- 268 ,(1986)
Alessandro Volpe, Andrea Guerriero, Antonio Marchetta, Paola Caramaschi, Lino Furlani, Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. Joint Bone Spine. ,vol. 76, pp. 708- 710 ,(2009) , 10.1016/J.JBSPIN.2009.02.001
M R Pollak, Y H Chou, S J Marx, B Steinmann, D E Cole, M L Brandi, S E Papapoulos, F H Menko, G N Hendy, E M Brown, Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. Journal of Clinical Investigation. ,vol. 93, pp. 1108- 1112 ,(1994) , 10.1172/JCI117062
M. Andrew Nesbit, Fadil M. Hannan, Sarah A. Howles, Valerie N. Babinsky, Rosie A. Head, Treena Cranston, Nigel Rust, Maurine R. Hobbs, Hunter Heath, Rajesh V. Thakker, Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia New England Journal of Medicine. ,vol. 368, pp. 2476- 2486 ,(2013) , 10.1056/NEJMOA1300253
Peter H. Nissen, Signe E. Christensen, Lene Heickendorff, Kim Brixen, Leif Mosekilde, Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. The Journal of Clinical Endocrinology and Metabolism. ,vol. 92, pp. 4373- 4379 ,(2007) , 10.1210/JC.2007-0322
H. J. L. M. TIMMERS, M. KARPERIEN, N. A. T. HAMDY, H. DE BOER, A. R. M. M. HERMUS, Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to a de novo inactivating mutation of the calcium-sensing receptor. Journal of Internal Medicine. ,vol. 260, pp. 177- 182 ,(2006) , 10.1111/J.1365-2796.2006.01684.X
Ramona Rus, Christine Haag, Christiane Bumke-Vogt, Volker Bähr, Bernhard Mayr, Matthias Möhlig, Egbert Schulze, Karin Frank-Raue, Friedhelm Raue, Christof Schöfl, Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. The Journal of Clinical Endocrinology and Metabolism. ,vol. 93, pp. 4797- 4803 ,(2008) , 10.1210/JC.2008-1076
STEPHEN J. MARX, MAURICE F. ATTIE, MICHAEL A. LEVINE, ALLEN M. SPIEGEL, ROBERT W. DOWNS, ROZ D. LASKER, The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine. ,vol. 60, pp. 397- 412 ,(1981) , 10.1097/00005792-198111000-00002