Bartter syndrome differential diagnosis: Difference between revisions

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| style="padding: 5px 5px; background: #DCDCDC;" | '''Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy'''
| style="padding: 5px 5px; background: #DCDCDC;" | '''Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy'''
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| style="padding: 5px 5px; background: #F5F5F5;" |
*
*Gullner syndrome presents with [[hypokalemic alkalosis]], [[hyperreninemia]], [[hyperaldosteronism]], high urinary [[prostaglandin E2]] excretion and normal blood pressure.
*
*Histologic examination of tissue obtained by biopsy from the kidneys showed intense staining of the proximal tubular cells, as well as extreme hypertrophy of the proximal tubular basement membranes.
*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>
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| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Mineralocorticoid excess]]'''
| style="padding: 5px 5px; background: #DCDCDC;" | '''[[Mineralocorticoid excess]]'''

Revision as of 15:44, 1 August 2020

Main article: Bartter syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]

Overview

Differentiating Bartter syndrome from other Diseases

Bartter syndrome diagnosis should be differentiated from other diseases manifesting with hypokalemia and hypochloremic metabolic alkalosis.[1]

Disease Findings
Gitelman syndrome
EAST syndrome
Diuretic abuse
Cyclical vomiting
Hyperprostaglandin E syndrome
Familial hypomagnesemia with hypercalciuria/nephrocalcinosis
Cystic fibrosis
Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy
  • Gullner syndrome presents with hypokalemic alkalosis, hyperreninemia, hyperaldosteronism, high urinary prostaglandin E2 excretion and normal blood pressure.
  • Histologic examination of tissue obtained by biopsy from the kidneys showed intense staining of the proximal tubular cells, as well as extreme hypertrophy of the proximal tubular basement membranes.
  • In contrast to Bartter syndrome, the juxtaglomerular apparatus were of normal appearance.[22]
Mineralocorticoid excess
Activating mutations of the CaSR calcium-sensing receptor
  • Patients with activating mutation of the calcium-sensing receptor (CaSR) gene presents with potassium wasting, hypokalemia, and metabolic alkalosis, similar to Bartter syndrome.[26][27]
  • An activating (or gain-of-function) mutation of the calcium-sensing receptor (CaSR) gene impairs the calcium balance in the body and cause hypocalcemia.
  • 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.[28][29][30]
Hypomagnesemia
Congenital chloride diarrhea
Hypochloremic alkalosis
Hypokalemia

References

  1. Gitelman HJ, Graham JB, Welt LG (1966). "A new familial disorder characterized by hypokalemia and hypomagnesemia". Trans Assoc Am Physicians. 79: 221–35. PMID 5929460.
  2. Scognamiglio R, Negut C, Calò LA (2007). "Aborted sudden cardiac death in two patients with Bartter's/Gitelman's syndromes". Clin Nephrol. 67 (3): 193–7. doi:10.5414/cnp67193. PMID 17390745.
  3. Urbanová M, Reiterová J, Stěkrová J, Lněnička P, Ryšavá R (2011). "DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening". Folia Biol (Praha). 57 (2): 65–73. PMID 21631963.
  4. Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M; et al. (2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". N Engl J Med. 360 (19): 1960–70. doi:10.1056/NEJMoa0810276. PMC 3398803. PMID 19420365.
  5. Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J; et al. (2009). "Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10". Proc Natl Acad Sci U S A. 106 (14): 5842–7. doi:10.1073/pnas.0901749106. PMC 2656559. PMID 19289823.
  6. Jamison RL, Ross JC, Kempson RL, Sufit CR, Parker TE (1982). "Surreptitious diuretic ingestion and pseudo-Bartter's syndrome". Am J Med. 73 (1): 142–7. doi:10.1016/0002-9343(82)90941-x. PMID 7091169.
  7. Colussi G, Rombolà G, Airaghi C, De Ferrari ME, Minetti L (1992). "Pseudo-Bartter's syndrome from surreptitious diuretic intake: differential diagnosis with true Bartter's syndrome". Nephrol Dial Transplant. 7 (9): 896–901. doi:10.1093/ndt/7.9.896. PMID 1328936.
  8. Sasaki H, Kawasaki T, Yamamoto T, Ninomiya H, Ono J, Yamamoto T; et al. (1986). "[Pseudo-Bartter's syndrome induced by surreptitious ingestion of furosemide to lose weight: a case report and possible pathophysiology]". Nihon Naibunpi Gakkai Zasshi. 62 (8): 867–81. doi:10.1507/endocrine1927.62.8_867. PMID 3023152.
  9. D'Avanzo M, Santinelli R, Tolone C, Bettinelli A, Bianchetti MG (1995). "Concealed administration of frusemide simulating Bartter syndrome in a 4.5-year-old boy". Pediatr Nephrol. 9 (6): 749–50. doi:10.1007/BF00868731. PMID 8747119.
  10. 10.0 10.1 Veldhuis JD, Bardin CW, Demers LM (1979). "Metabolic mimicry of Bartter's syndrome by covert vomiting: utility of urinary chloride determinations". Am J Med. 66 (2): 361–3. doi:10.1016/0002-9343(79)90566-7. PMID 425977.
  11. Cetinkaya M, Köksal N, Ozkan H, Dönmez O, Sağlam H, Kiriştioğlu I (2008). "Hyperprostaglandin E syndrome: use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis". Turk J Pediatr. 50 (4): 386–90. PMID 19014056.
  12. Praga M, Vara J, González-Parra E, Andrés A, Alamo C, Araque A; et al. (1995). "Familial hypomagnesemia with hypercalciuria and nephrocalcinosis". Kidney Int. 47 (5): 1419–25. doi:10.1038/ki.1995.199. PMID 7637271.
  13. Nicholson JC, Jones CL, Powell HR, Walker RG, McCredie DA (1995). "Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure". Pediatr Nephrol. 9 (1): 74–6. doi:10.1007/BF00858976. PMID 7742227.
  14. Benigno V, Canonica CS, Bettinelli A, von Vigier RO, Truttmann AC, Bianchetti MG (2000). "Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review". Nephrol Dial Transplant. 15 (5): 605–10. doi:10.1093/ndt/15.5.605. PMID 10809799.
  15. Müller D, Kausalya PJ, Bockenhauer D, Thumfart J, Meij IC, Dillon MJ; et al. (2006). "Unusual clinical presentation and possible rescue of a novel claudin-16 mutation". J Clin Endocrinol Metab. 91 (8): 3076–9. doi:10.1210/jc.2006-0200. PMID 16705067.
  16. Konrad M, Hou J, Weber S, Dötsch J, Kari JA, Seeman T; et al. (2008). "CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis". J Am Soc Nephrol. 19 (1): 171–81. doi:10.1681/ASN.2007060709. PMC 2391030. PMID 18003771.
  17. Kose M, Pekcan S, Ozcelik U, Cobanoglu N, Yalcin E, Dogru D; et al. (2008). "An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients". Eur J Pediatr. 167 (1): 115–6. doi:10.1007/s00431-007-0413-3. PMID 17323076.
  18. Kennedy JD, Dinwiddie R, Daman-Willems C, Dillon MJ, Matthew DJ (1990). "Pseudo-Bartter's syndrome in cystic fibrosis". Arch Dis Child. 65 (7): 786–7. doi:10.1136/adc.65.7.786. PMC 1792454. PMID 2386386.
  19. Bates CM, Baum M, Quigley R (1997). "Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent". J Am Soc Nephrol. 8 (2): 352–5. PMID 9048354.
  20. Davé S, Honney S, Raymond J, Flume PA (2005). "An unusual presentation of cystic fibrosis in an adult". Am J Kidney Dis. 45 (3): e41–4. doi:10.1053/j.ajkd.2004.11.009. PMID 15754262.
  21. Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L; et al. (1995). "A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration". J Pediatr. 127 (2): 281–3. doi:10.1016/s0022-3476(95)70310-1. PMID 7543567.
  22. Güllner HG, Bartter FC, Gill JR, Dickman PS, Wilson CB, Tiwari JL (1983). "A sibship with hypokalemic alkalosis and renal proximal tubulopathy". Arch Intern Med. 143 (8): 1534–40. doi:10.1001/archinte.1983.00350080040011. PMID 6347111.
  23. Morineau G, Sulmont V, Salomon R, Fiquet-Kempf B, Jeunemaître X, Nicod J; et al. (2006). "Apparent mineralocorticoid excess: report of six new cases and extensive personal experience". J Am Soc Nephrol. 17 (11): 3176–84. doi:10.1681/ASN.2006060570. PMID 17035606.
  24. Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS; et al. (1998). "Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess". J Clin Endocrinol Metab. 83 (7): 2244–54. doi:10.1210/jcem.83.7.4986. PMID 9661590.
  25. Bockenhauer D, van't Hoff W, Dattani M, Lehnhardt A, Subtirelu M, Hildebrandt F; et al. (2010). "Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases". Nephron Physiol. 116 (4): p23–9. doi:10.1159/000320117. PMC 3896046. PMID 20733335.
  26. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R; et al. (2002). "Association between activating mutations of calcium-sensing receptor and Bartter's syndrome". Lancet. 360 (9334): 692–4. doi:10.1016/S0140-6736(02)09842-2. PMID 12241879.
  27. Konrad M, Weber S (2003). "Recent advances in molecular genetics of hereditary magnesium-losing disorders". J Am Soc Nephrol. 14 (1): 249–60. doi:10.1097/01.asn.0000049161.60740.ce. PMID 12506158.
  28. Brown EM (2007). "Clinical lessons from the calcium-sensing receptor". Nat Clin Pract Endocrinol Metab. 3 (2): 122–33. doi:10.1038/ncpendmet0388. PMID 17237839.
  29. Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J; et al. (1994). "Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation". Nat Genet. 8 (3): 303–7. doi:10.1038/ng1194-303. PMID 7874174.
  30. D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M; et al. (2002). "Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia". J Clin Endocrinol Metab. 87 (3): 1309–18. doi:10.1210/jcem.87.3.8280. PMID 11889203.
  31. Tong GM, Rude RK (2005). "Magnesium deficiency in critical illness". J Intensive Care Med. 20 (1): 3–17. doi:10.1177/0885066604271539. PMID 15665255.
  32. Wong ET, Rude RK, Singer FR, Shaw ST (1983). "A high prevalence of [[hypomagnesemia]] and [[hypermagnesemia]] in hospitalized patients". Am J Clin Pathol. 79 (3): 348–52. doi:10.1093/ajcp/79.3.348. PMID 6829504. URL–wikilink conflict (help)
  33. Wedenoja S, Höglund P, Holmberg C (2010). "Review article: the clinical management of congenital chloride diarrhoea". Aliment Pharmacol Ther. 31 (4): 477–85. doi:10.1111/j.1365-2036.2009.04197.x. PMID 19912155.
  34. EVANSON JM, STANBURY SW (1965). "CONGENITAL CHLORIDORRHOEA OR SO-CALLED CONGENITAL ALKALOSIS WITH DIARRHOEA". Gut. 6: 29–38. doi:10.1136/gut.6.1.29. PMC 1552247. PMID 14259421.
  35. "Alkalosis: MedlinePlus Medical Encyclopedia".
  36. Gennari FJ (1998). "Hypokalemia". N Engl J Med. 339 (7): 451–8. doi:10.1056/NEJM199808133390707. PMID 9700180.
  37. Kim GH, Han JS (2002). "Therapeutic approach to hypokalemia". Nephron. 92 Suppl 1: 28–32. doi:10.1159/000065374. PMID 12401935.


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