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1995 4
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1997 3
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1999 2
2000 2
2001 4
2002 6
2003 3
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2012 3
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Page 1
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R. Hureaux M, et al. Kidney Int. 2019 Dec;96(6):1408-1416. doi: 10.1016/j.kint.2019.08.027. Epub 2019 Sep 16. Kidney Int. 2019. PMID: 31672324 Free article.
To do this we analyzed 1033 non-related adult patients of which 744 had a clinical diagnosis of tubulopathy and 289 had a diagnosis of familial hypercalcemia with hypocalciuria recruited by three European reference centers. Three-quarters of our tubulopathies cohort includ …
To do this we analyzed 1033 non-related adult patients of which 744 had a clinical diagnosis of tubulopathy and 289 had a diagnosis of famil …
A systematic review and meta-analysis of hypocalciuria in pre-eclampsia.
McMaster KM, Kaunitz AM, Burbano de Lara P, Sanchez-Ramos L. McMaster KM, et al. Int J Gynaecol Obstet. 2017 Jul;138(1):3-11. doi: 10.1002/ijgo.12165. Epub 2017 May 2. Int J Gynaecol Obstet. 2017. PMID: 28369876 Review.
BACKGROUND: Small observational studies have demonstrated that pre-eclampsia is associated with hypocalciuria. ...SEARCH STRATEGY: Online databases were searched through February 2016 using medical subject headings "calcium homeostasis," "calcium excretion," "hyp …
BACKGROUND: Small observational studies have demonstrated that pre-eclampsia is associated with hypocalciuria. ...SEARCH STRAT …
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O. Riveira-Munoz E, et al. Pediatr Nephrol. 2007 Mar;22(3):326-32. doi: 10.1007/s00467-006-0321-1. Epub 2006 Oct 24. Pediatr Nephrol. 2007. PMID: 17061123 Review.
Gitelman's syndrome (GS) is a salt-losing tubulopathy characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria. The disease is associated with inactivating mutations in the SLC12A3 gene that codes for the thiazide-sensitive Na+-Cl- cotransporter (NCCT) …
Gitelman's syndrome (GS) is a salt-losing tubulopathy characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria. T …
Familial benign hypocalciuric hypercalcemia.
Fuleihan Gel-H. Fuleihan Gel-H. J Bone Miner Res. 2002 Nov;17 Suppl 2:N51-6. J Bone Miner Res. 2002. PMID: 12412778 Review.
Clinical, biochemical, and pathophysiological observations over several decades on familial benign hypocalciuric hypercalcemia (FBHH) ultimately culminated in the 1990s in the unraveling of the genetic basis of this calcium-sensing familial disorder. ...FBHH is a rare auto …
Clinical, biochemical, and pathophysiological observations over several decades on familial benign hypocalciuric hypercalcemia (FBHH) …
Familial hypocalciuric hypercalcaemia: a review.
Christensen SE, Nissen PH, Vestergaard P, Mosekilde L. Christensen SE, et al. Curr Opin Endocrinol Diabetes Obes. 2011 Dec;18(6):359-70. doi: 10.1097/MED.0b013e32834c3c7c. Curr Opin Endocrinol Diabetes Obes. 2011. PMID: 21986511 Review.
RECENT FINDINGS: FHH is caused by inactivating mutations in the calcium sensing receptor (CASR) gene leading to a general calcium-hyposensitivity, compensatory hypercalcaemia and hypocalciuria. The inheritance of FHH is autosomal dominant. Similar to PHPT, FHH is character …
RECENT FINDINGS: FHH is caused by inactivating mutations in the calcium sensing receptor (CASR) gene leading to a general calcium-hyposensit …
Gitelman syndrome: pathophysiological and clinical aspects.
Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C. Graziani G, et al. QJM. 2010 Oct;103(10):741-8. doi: 10.1093/qjmed/hcq123. Epub 2010 Jul 22. QJM. 2010. PMID: 20650971 Review.
The plasma biochemical picture is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hypereninemic hyperaldosteronism. However, patients with GS present some clinical and biochemical alterations resembling that observed in thiazide …
The plasma biochemical picture is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hypereninemic …
Calcium homeostasis and hyperparathyroidism: Nephrologic and endocrinologic points of view.
Lemoine S, Figueres L, Bacchetta J, Frey S, Dubourg L. Lemoine S, et al. Ann Endocrinol (Paris). 2022 Aug;83(4):237-243. doi: 10.1016/j.ando.2022.05.003. Epub 2022 May 19. Ann Endocrinol (Paris). 2022. PMID: 35598638 Review.
Hyperparathyroidism consists in PTH elevation, which may be adapted (secondary hyperparathyroidism) or non-adapted to calcemia levels (primary hyperparathyroidism, familial hypercalcemia/hypocalciuria, tertiary hyperparathyroidism). Primary hyperparathyroidism (PHP) featur …
Hyperparathyroidism consists in PTH elevation, which may be adapted (secondary hyperparathyroidism) or non-adapted to calcemia levels (prima …
The laboratory evaluation of hypertensive gravidas.
Magann EF, Martin JN Jr. Magann EF, et al. Obstet Gynecol Surv. 1995 Feb;50(2):138-45. doi: 10.1097/00006254-199502000-00026. Obstet Gynecol Surv. 1995. PMID: 7731626 Review.
A number of laboratory tests are available for the evaluation of the hypertensive gravida. These tests can be used to either predict and/or prognosticate between preeclampsia and other hypertensive disorders of pregnancy. ...Circulating hCG and serum thromboglobulin seem t …
A number of laboratory tests are available for the evaluation of the hypertensive gravida. These tests can be used to either predict …
The mechanism of hypocalciuria with NaCl cotransporter inhibition.
Reilly RF, Huang CL. Reilly RF, et al. Nat Rev Nephrol. 2011 Sep 27;7(11):669-74. doi: 10.1038/nrneph.2011.138. Nat Rev Nephrol. 2011. PMID: 21947122 Review.
Although studies have shown a reduction in the recurrence rate of calcium-containing stones in patients treated with thiazides, whether hypocalciuria results from increased calcium reabsorption in the proximal or distal nephron is still unclear. ...The distal tubule is pre …
Although studies have shown a reduction in the recurrence rate of calcium-containing stones in patients treated with thiazides, whether h …
Hypomagnesaemia of hereditary renal origin.
Rodríguez-Soriano J, Vallo A, García-Fuentes M. Rodríguez-Soriano J, et al. Pediatr Nephrol. 1987 Jul;1(3):465-72. doi: 10.1007/BF00849255. Pediatr Nephrol. 1987. PMID: 3153319 Review.
Hypomagnesaemia is accompanied by hypokalaemia, metabolic alkalosis, hypocalciuria and moderate sodium chloride wasting. Titration of renal Mg reabsorption indicates the presence of a low threshold but a normal Tm. ...Ocular abnormalities such as myopia and horizontal nyst …
Hypomagnesaemia is accompanied by hypokalaemia, metabolic alkalosis, hypocalciuria and moderate sodium chloride wasting. Titration of …
75 results