Bartter syndrome differential diagnosis

	Bartter syndrome Microchapters
Home
Patient Information
Overview
Historical Perspective
Pathophysiology
Causes
Differentiating Bartter syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Bartter syndrome differential diagnosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Bartter syndrome differential diagnosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Bartter syndrome differential diagnosis
CDC on Bartter syndrome differential diagnosis
Bartter syndrome differential diagnosis in the news
Blogs on Bartter syndrome differential diagnosis
Directions to Hospitals Treating Bartter syndrome
Risk calculators and risk factors for Bartter syndrome differential diagnosis

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	Hypocalciuria (low urinary calcium) is a distinct feature and interstitial nephritis may develop because of the persistent hypokalemia. Adults can present with chondrocalcinosis with swollen and warm joints with overlying tenderness. Sudden cardiac arrest has been reported occasionally.^[2] Growth retardation is absent in Gitelman syndrome.^[3]
Diuretic abuse	Diuretic abuse should be considered in all patients with unexplained hypokalemia and metabolic alkalosis.^[4]^[5]^[6] Sometimes parents or caregivers administer diuretics in infants. It is hard to differentiate diuretic abuse from Bartter syndrome by blood and urinary electrolyte measurements. A diuretic screen is warranted.^[7]
Cyclical vomiting	In the case of cyclical vomiting for a variety of reasons, urine chloride concentration differs from that of Bartter syndrome. This is usually less than 25 mEq/L in patients with chronic vomiting as a result of hypovolemia and hypochloremia. In Bartter syndrome the urine chloride concentration is typically much higher (usually greater than 40 mEq/L).^[8]
Hyperprostaglandin E syndrome
Familial hypomagnesemia with hypercalciuria/nephrocalcinosis
Cystic fibrosis	Patients with cystic fibrosis lose salt-rich sweat. Patients with moderate cystic fibrosis manifest with unexplained hypokalemia and metabolic alkalosis.^[9]^[10]^[11] In contrast to Bartter syndrome, spot urine chloride concentration is low in cystic fibrosis indicating chloride conservation in response to volume contraction.^[12]^[13]
Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy
Mineralocorticoid excess
Activating mutations of the CaSR calcium-sensing receptor
Hypomagnesemia
Congenital chloride diarrhea
Hypochloremic alkalosis
Hypokalemia

References

↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

Template:WikiDoc Sources

[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.

[pmid17390745-2] 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.

[pmid21631963-3] 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.

[pmid7091169-4] 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.

[pmid1328936-5] 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.

[pmid3023152-6] 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.

[pmid8747119-7] 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.

[pmid425977-8] 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.

[pmid17323076-9] 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.

[pmid2386386-10] 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.

[pmid9048354-11] 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.

[pmid15754262-12] 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.

[pmid7543567-13] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

Bartter syndrome differential diagnosis

Overview

Differentiating Bartter syndrome from other Diseases

References

Navigation menu