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| | style="padding: 5px 5px; background: #DCDCDC;" | '''Antiphospholipid syndrome''' | | | style="padding: 5px 5px; background: #DCDCDC;" | '''Antiphospholipid syndrome''' |
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| *Familial [[hypomagnesemia]] with [[hypercalciuria]]/[[nephrocalcinosis]] is an [[autosomal recessive]] disorder associated with [[hypercalciuria]]. The disease presents in childhood or adolescence with [[hypocalcemia|hypocalcemic]] symptoms. | | * Women have a history of [[arterial|artery]] thrombi and [[deep venous thrombosis]] in lower extremeties, recurrent [[abortion]], [[stroke]] and headache. |
| *Renal insufficiency occurs as a result of nephrolithiasis and nephrocalcinosis.
| | * These patients have prolonged activated [[partial thromboplastin time]] and positive serology for [[anti-cardiolipin antibodies]]. |
| *Familial [[hypomagnesemia]] with [[hypercalciuria]]/[[nephrocalcinosis]] is a result of a [[mutation]] in the claudin-16 gene (also known as paracellin-1). Claudin-16 is a [[tight junction]] protein that facilitates the passive, paracellular reabsorption of both [[magnesium]] and [[calcium]] in the [[loop of Henle|thick ascending limb of the loop of Henle]].<ref name="pmid7637271">{{cite journal| author=Praga M, Vara J, González-Parra E, Andrés A, Alamo C, Araque A | display-authors=etal| title=Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. | journal=Kidney Int | year= 1995 | volume= 47 | issue= 5 | pages= 1419-25 | pmid=7637271 | doi=10.1038/ki.1995.199 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7637271 }} </ref><ref name="pmid7742227">{{cite journal| author=Nicholson JC, Jones CL, Powell HR, Walker RG, McCredie DA| title=Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure. | journal=Pediatr Nephrol | year= 1995 | volume= 9 | issue= 1 | pages= 74-6 | pmid=7742227 | doi=10.1007/BF00858976 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7742227 }} </ref><ref name="pmid10809799">{{cite journal| author=Benigno V, Canonica CS, Bettinelli A, von Vigier RO, Truttmann AC, Bianchetti MG| title=Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review. | journal=Nephrol Dial Transplant | year= 2000 | volume= 15 | issue= 5 | pages= 605-10 | pmid=10809799 | doi=10.1093/ndt/15.5.605 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10809799 }} </ref><ref name="pmid16705067">{{cite journal| author=Müller D, Kausalya PJ, Bockenhauer D, Thumfart J, Meij IC, Dillon MJ | display-authors=etal| title=Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. | journal=J Clin Endocrinol Metab | year= 2006 | volume= 91 | issue= 8 | pages= 3076-9 | pmid=16705067 | doi=10.1210/jc.2006-0200 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16705067 }} </ref><ref name="pmid18003771">{{cite journal| author=Konrad M, Hou J, Weber S, Dötsch J, Kari JA, Seeman T | display-authors=etal| title=CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. | journal=J Am Soc Nephrol | year= 2008 | volume= 19 | issue= 1 | pages= 171-81 | pmid=18003771 | doi=10.1681/ASN.2007060709 | pmc=2391030 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18003771 }} </ref> | |
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| | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Cystic fibrosis]]''' | | | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Malaria]], [[Babesiosis]]''' |
| | style="padding: 5px 5px; background: #F5F5F5;" | | | | style="padding: 5px 5px; background: #F5F5F5;" | |
| *Patients with [[cystic fibrosis]] lose salt-rich sweat. | | * [[Patient]]s presents with periodic spikes of high-grade [[fever]] with [[rigor]]s, [[chill]]s, [[nausea]], [[vomiting]], [[fatigue]], [[myalgia]] and malaise. |
| *Patients with moderate [[cystic fibrosis]] manifest with unexplained [[hypokalemia]] and [[metabolic alkalosis]].<ref name="pmid17323076">{{cite journal| author=Kose M, Pekcan S, Ozcelik U, Cobanoglu N, Yalcin E, Dogru D | display-authors=etal| title=An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients. | journal=Eur J Pediatr | year= 2008 | volume= 167 | issue= 1 | pages= 115-6 | pmid=17323076 | doi=10.1007/s00431-007-0413-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17323076 }} </ref><ref name="pmid2386386">{{cite journal| author=Kennedy JD, Dinwiddie R, Daman-Willems C, Dillon MJ, Matthew DJ| title=Pseudo-Bartter's syndrome in cystic fibrosis. | journal=Arch Dis Child | year= 1990 | volume= 65 | issue= 7 | pages= 786-7 | pmid=2386386 | doi=10.1136/adc.65.7.786 | pmc=1792454 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2386386 }} </ref><ref name="pmid9048354">{{cite journal| author=Bates CM, Baum M, Quigley R| title=Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent. | journal=J Am Soc Nephrol | year= 1997 | volume= 8 | issue= 2 | pages= 352-5 | pmid=9048354 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9048354 }} </ref>
| | * The intra-[[cell]ular [[parasite]]] are identified on special stained [[peripheral blood smear]]. |
| *In contrast to [[Bartter syndrome]], spot urine [[chloride]] concentration is low in [[cystic fibrosis]] indicating [[chloride]] conservation in response to volume contraction.<ref name="pmid15754262">{{cite journal| author=Davé S, Honney S, Raymond J, Flume PA| title=An unusual presentation of cystic fibrosis in an adult. | journal=Am J Kidney Dis | year= 2005 | volume= 45 | issue= 3 | pages= e41-4 | pmid=15754262 | doi=10.1053/j.ajkd.2004.11.009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15754262 }} </ref><ref name="pmid7543567">{{cite journal| author=Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L | display-authors=etal| title=A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. | journal=J Pediatr | year= 1995 | volume= 127 | issue= 2 | pages= 281-3 | pmid=7543567 | doi=10.1016/s0022-3476(95)70310-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7543567 }} </ref>
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| | style="padding: 5px 5px; background: #DCDCDC;" | '''Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy''' | | | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Viral]] [[Infection]]s''' |
| | style="padding: 5px 5px; background: #F5F5F5;" | | | | style="padding: 5px 5px; background: #F5F5F5;" | |
| *Gullner syndrome presents with [[metabolic alkalosis|hypokalemic alkalosis]], [[renin|hyperreninemia]], [[hyperaldosteronism]], high urinary [[prostaglandin|prostaglandin E2]] excretion and normal [[blood pressure]]. | | * In specific [[viral]] [[disease]]s like [[Dengue]] hemorrhagic fever, [[hantavirus]] and [[filoviridae]], there is significant [[thrombocytopenia]]. |
| *Histologic examination of tissue obtained by biopsy from the kidneys showed intense staining of the [[tubular cells|proximal tubular cells]], as well as extreme hypertrophy of the [[basement membrane|proximal tubular basement membranes]].
| | * Patients have a recent history of travel. |
| *In contrast to [[Bartter syndrome]], the [[juxtaglomerular apparatus]] were of normal appearance.<ref name="pmid6347111">{{cite journal| author=Güllner HG, Bartter FC, Gill JR, Dickman PS, Wilson CB, Tiwari JL| title=A sibship with hypokalemic alkalosis and renal proximal tubulopathy. | journal=Arch Intern Med | year= 1983 | volume= 143 | issue= 8 | pages= 1534-40 | pmid=6347111 | doi=10.1001/archinte.1983.00350080040011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6347111 }} </ref>
| | * There are no signs of [[hemolysis]] on laboratory workup. |
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| | style="padding: 5px 5px; background: #DCDCDC;" | '''Activating mutations of the CaSR calcium-sensing receptor'''
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| *Patients with [[mutation|activating mutation]] of the calcium-sensing receptor (CaSR) gene presents with [[potassium]] wasting, [[hypokalemia]], and [[metabolic alkalosis]], similar to [[Bartter syndrome]].<ref name="pmid12241879">{{cite journal| author=Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R | display-authors=etal| title=Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. | journal=Lancet | year= 2002 | volume= 360 | issue= 9334 | pages= 692-4 | pmid=12241879 | doi=10.1016/S0140-6736(02)09842-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12241879 }} </ref><ref name="pmid12506158">{{cite journal| author=Konrad M, Weber S| title=Recent advances in molecular genetics of hereditary magnesium-losing disorders. | journal=J Am Soc Nephrol | year= 2003 | volume= 14 | issue= 1 | pages= 249-60 | pmid=12506158 | doi=10.1097/01.asn.0000049161.60740.ce | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12506158 }} </ref> | |
| *An activating (or gain-of-function) mutation of the calcium-sensing receptor (CaSR) gene impairs the calcium balance in the body and cause hypocalcemia.
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| *Activating mutation in the receptor increases the threshold for the receptor to detect the low calcium level. This causes the parathyroid hormone (PTH) to not release at serum calcium level that normally signals PTH release.<ref name="pmid17237839">{{cite journal| author=Brown EM| title=Clinical lessons from the calcium-sensing receptor. | journal=Nat Clin Pract Endocrinol Metab | year= 2007 | volume= 3 | issue= 2 | pages= 122-33 | pmid=17237839 | doi=10.1038/ncpendmet0388 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17237839 }} </ref><ref name="pmid7874174">{{cite journal| author=Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J | display-authors=etal| title=Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. | journal=Nat Genet | year= 1994 | volume= 8 | issue= 3 | pages= 303-7 | pmid=7874174 | doi=10.1038/ng1194-303 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7874174 }} </ref><ref name="pmid11889203">{{cite journal| author=D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M | display-authors=etal| title=Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. | journal=J Clin Endocrinol Metab | year= 2002 | volume= 87 | issue= 3 | pages= 1309-18 | pmid=11889203 | doi=10.1210/jcem.87.3.8280 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11889203 }} </ref>
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| | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Hypomagnesemia]]'''
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| *There are two major mechanisms by which [[hypomagnesemia]] can be induced such as gastrointestinal loss and renal loss. | |
| *[[Hypomagnesemia]] is often associated with [[hypokalemia]], [[hypocalcemia]], and [[metabolic alkalosis]].<ref name="pmid15665255">{{cite journal| author=Tong GM, Rude RK| title=Magnesium deficiency in critical illness. | journal=J Intensive Care Med | year= 2005 | volume= 20 | issue= 1 | pages= 3-17 | pmid=15665255 | doi=10.1177/0885066604271539 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15665255 }} </ref>
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| *In contrast to [[Bartter syndrome]], [[Hypomagnesemia]] is a common condition that occurs in up to 12 percent of hospitalized patients.<ref name="pmid6829504">{{cite journal| author=Wong ET, Rude RK, Singer FR, Shaw ST| title=A high prevalence of [[hypomagnesemia]] and [[hypermagnesemia]] in hospitalized patients. | journal=Am J Clin Pathol | year= 1983 | volume= 79 | issue= 3 | pages= 348-52 | pmid=6829504 | doi=10.1093/ajcp/79.3.348 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6829504 }} </ref>
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| | style="padding: 5px 5px; background: #DCDCDC;" | '''Congenital chloride diarrhea'''
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| *Early diagnosis is a prerequisite for [[Diarrhea|congenital chloride diarrhea]] in a newborn. It is a medical emergency that leads to severe [[dehydration]] and infant death.<ref name="pmid19912155">{{cite journal| author=Wedenoja S, Höglund P, Holmberg C| title=Review article: the clinical management of congenital chloride diarrhoea. | journal=Aliment Pharmacol Ther | year= 2010 | volume= 31 | issue= 4 | pages= 477-85 | pmid=19912155 | doi=10.1111/j.1365-2036.2009.04197.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19912155 }} </ref>
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| *This disorder is due to a [[mutation]] in a gene that encodes an exchange protein, expressed in the [[ileum]] and [[colon]], which works as a channel to absorbs [[chloride]] from the intestinal lumen and secretes [[bicarbonate]].
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| *[[Mutation]] impairs the function of the [[chloride-bicarbonate]] channel and results in very high stool [[chloride]] concentrations (>100 mEq/L). In contrast to [[Bartter syndrome]], the urinary [[chloride]] measurement is less than 20 mEq/L.<ref name="pmid14259421">{{cite journal| author=EVANSON JM, STANBURY SW| title=CONGENITAL CHLORIDORRHOEA OR SO-CALLED CONGENITAL ALKALOSIS WITH DIARRHOEA. | journal=Gut | year= 1965 | volume= 6 | issue= | pages= 29-38 | pmid=14259421 | doi=10.1136/gut.6.1.29 | pmc=1552247 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14259421 }} </ref>
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| | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Hypochloremia|Hypochloremic alkalosis]]'''
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| *[[Hypochloremic alkalosis]] is caused by an extreme lack or loss of [[chloride]], such as from prolonged vomiting.<ref name="urlAlkalosis: MedlinePlus Medical Encyclopedia">{{cite web |url=https://medlineplus.gov/ency/article/001183.htm |title=Alkalosis: MedlinePlus Medical Encyclopedia |format= |work= |accessdate=}}</ref>
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| *In contrast to [[Bartter syndrome]], the measurement of a spot urine [[chloride]] concentration is less than 25 mEq/l in [[hypochloremic alkalosis]].<ref name="pmid425977">{{cite journal| author=Veldhuis JD, Bardin CW, Demers LM| title=Metabolic mimicry of Bartter's syndrome by covert vomiting: utility of urinary chloride determinations. | journal=Am J Med | year= 1979 | volume= 66 | issue= 2 | pages= 361-3 | pmid=425977 | doi=10.1016/0002-9343(79)90566-7 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=425977 }} </ref>
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| | style="padding: 5px 5px; background: #DCDCDC;" | '''[[Hypokalemia]]'''
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| *[[Hypokalemia]] can be induced by a gastrointestinal loss such as [[diarrhea]] and [[vomiting]] and urinary loss such as [[diuretic]] therapy. It can be induced transiently by entering into cells.<ref name="pmid9700180">{{cite journal| author=Gennari FJ| title=Hypokalemia. | journal=N Engl J Med | year= 1998 | volume= 339 | issue= 7 | pages= 451-8 | pmid=9700180 | doi=10.1056/NEJM199808133390707 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9700180 }} </ref>
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| *Prolonged [[hypokalemia]] can lead to impaired ability of kidneys to concentrate urine, increased [[bicarbonate]] reabsorption.
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| *In contrast to [[Bartter syndrome]], blood pressure is elevated in [[hypokalemia]].<ref name="pmid12401935">{{cite journal| author=Kim GH, Han JS| title=Therapeutic approach to hypokalemia. | journal=Nephron | year= 2002 | volume= 92 Suppl 1 | issue= | pages= 28-32 | pmid=12401935 | doi=10.1159/000065374 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12401935 }} </ref>
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