Bartter syndrome differential diagnosis: Difference between revisions

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==Overview==
==Overview==
[[Bartter syndrome]] diagnosis should be differentiated from other diseases manifesting with [[hypokalemia]] and [[metabolic alkalosis|hypochloremic metabolic alkalosis]]. In Gitelman syndrome, [[hypocalciuria]] (low urinary calcium) is a distinct feature and [[interstitial nephritis]] may develop because of the persistent [[hypokalemia]]. Growth retardation is absent in [[Gitelman syndrome]]. EAST syndrome also is known as SeSAME syndrome is a rare inherited disorder that presents in infancy. It results from [[mutation|homozygous mutations]] in the KCNJ10 gene, which encodes for a [[potassium channel]] that is expressed in the [[basolateral membrane]] of [[distal tubules]], as well as in the brain. It is characterized by [[Epilepsy]], [[Ataxia|severe Ataxia]], moderate [[Sensorineural deafness]], and Tubulopathy leading to renal salt wasting, [[hypokalemia]], [[metabolic alkalosis]], and normal blood pressure. [[Diuretic|Diuretic abuse]] should be considered in all patients with unexplained [[hypokalemia]] and [[metabolic alkalosis]]. It is hard to differentiate [[diuretic|diuretic abuse]] from [[Bartter syndrome]] by blood and urinary electrolyte measurements. A [[diuretic]] screen is warranted. In the case of [[vomiting|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). Hyperprostaglandin E syndrome(HPS) occurs during [[pregnancy]] before a birth. It is an antenatal variant of [[Bartter syndrome]] characterized by [[polyhydramnios]] and [[preterm delivery]]. In the [[postnatal period]], it is characterized by [[salt-wasting]], [[hypercalciuria]], and [[nephrocalcinosis]]. 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]]. In contrast to [[Bartter syndrome]], spot urine [[chloride]] concentration is low in [[cystic fibrosis]] indicating [[chloride]] conservation in response to volume contraction. Patients with moderate [[cystic fibrosis]] manifest with unexplained [[hypokalemia]] and [[metabolic alkalosis]]. Patients with moderate [[cystic fibrosis]] manifest with unexplained [[hypokalemia]] and [[metabolic alkalosis]]. Gullner syndrome presents with [[metabolic alkalosis|hypokalemic alkalosis]], [[renin|hyperreninemia]], [[hyperaldosteronism]], high urinary [[prostaglandin|prostaglandin E2]] excretion and normal [[blood pressure]]. [[Mineralocorticoid]] excess is presented with [[low birth weight]], [[failure to thrive]], [[hypercalciuria]] and [[nephrocalcinosis]] from an unknown mechanism, and [[renal failure]]. In contrast to [[Bartter syndrome]], severe [[hypertension]] in early childhood with extensive target organ damage occurs in [[mineralocorticoid excess]]. In contrast to [[Bartter syndrome]], [[mineralocorticoid excess]] is characterized by low plasma [[renin]] and [[aldosterone]]. Patients with [[mutation|activating mutation]] of the calcium-sensing receptor (CaSR) gene presents with [[potassium]] wasting, [[hypokalemia]], and [[metabolic alkalosis]], similar to [[Bartter syndrome]]. 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. An activating (or gain-of-function) mutation of the calcium-sensing receptor (CaSR) gene impairs the calcium balance in the body and cause hypocalcemia. [[Hypomagnesemia]] is often associated with [[hypokalemia]], [[hypocalcemia]], and [[metabolic alkalosis]]. In congenital chloride diarrhea, [[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. [[Hypochloremic alkalosis]] is caused by an extreme lack or loss of [[chloride]], such as from prolonged vomiting. In contrast to [[Bartter syndrome]], the measurement of a spot urine [[chloride]] concentration is less than 25 mEq/l in [[hypochloremic alkalosis]]. In contrast to [[Bartter syndrome]], blood pressure is elevated in [[hypokalemia]]. Prolonged [[hypokalemia]] can lead to impaired ability of kidneys to concentrate urine, increased [[bicarbonate]] reabsorption.  
[[Bartter syndrome]] diagnosis should be differentiated from other diseases manifesting with [[hypokalemia]] and [[metabolic alkalosis|hypochloremic metabolic alkalosis]] such as Gitelman syndrome, EAST syndrome also is known as SeSAME syndrome, [[Diuretic|Diuretic abuse]], [[vomiting|cyclical vomiting]], Hyperprostaglandin E syndrome(HPS), Familial [[hypomagnesemia]], [[cystic fibrosis]], Gullner syndrome, [[Mineralocorticoid]] excess, [[mutation|Activating mutation]] of the calcium-sensing receptor (CaSR) gene, [[Hypomagnesemia]] is often associated with [[hypokalemia]], [[hypocalcemia]], and [[metabolic alkalosis]], Congenital chloride diarrhea, [[Hypochloremic alkalosis]] and [[Hypokalemia]]. Prolonged [[hypokalemia]] can lead to impaired ability of kidneys to concentrate urine, increased [[bicarbonate]] reabsorption.
 
==Differentiating Bartter syndrome from other Diseases==
==Differentiating Bartter syndrome from other Diseases==
[[Bartter syndrome]] diagnosis should be differentiated from other diseases manifesting with [[hypokalemia]] and [[metabolic alkalosis|hypochloremic metabolic alkalosis]].<ref>{{cite journal | author=Gitelman HJ, Graham JB, Welt LG | title=A new familial disorder characterized by hypokalemia and hypomagnesemia | journal=Trans Assoc Am Physicians | year=1966 | pages=221-35 | volume=79  | id=PMID 5929460}} </ref>
[[Bartter syndrome]] diagnosis should be differentiated from other diseases manifesting with [[hypokalemia]] and [[metabolic alkalosis|hypochloremic metabolic alkalosis]].<ref>{{cite journal | author=Gitelman HJ, Graham JB, Welt LG | title=A new familial disorder characterized by hypokalemia and hypomagnesemia | journal=Trans Assoc Am Physicians | year=1966 | pages=221-35 | volume=79  | id=PMID 5929460}} </ref>

Latest revision as of 19:52, 5 August 2020

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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

Bartter syndrome diagnosis should be differentiated from other diseases manifesting with hypokalemia and hypochloremic metabolic alkalosis such as Gitelman syndrome, EAST syndrome also is known as SeSAME syndrome, Diuretic abuse, cyclical vomiting, Hyperprostaglandin E syndrome(HPS), Familial hypomagnesemia, cystic fibrosis, Gullner syndrome, Mineralocorticoid excess, Activating mutation of the calcium-sensing receptor (CaSR) gene, Hypomagnesemia is often associated with hypokalemia, hypocalcemia, and metabolic alkalosis, Congenital chloride diarrhea, Hypochloremic alkalosis and Hypokalemia. Prolonged hypokalemia can lead to impaired ability of kidneys to concentrate urine, increased bicarbonate reabsorption.

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
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

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