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*Bartter syndrome can be caused by mutations in at least five genes. | ==Overview== | ||
*Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes. | [[Bartter syndrome]] can be caused by [[mutations]] in at least five genes. [[Mutations]] in the SLC12A1 gene cause type I. Type II results from [[mutations]] in the KCNJ1 gene. [[Mutations]] in the CLCNKB gene are responsible for type III. Type IV can result from [[mutations]] in the BSND gene or from a combination of [[mutations]] in the CLCNKA and CLCNKB genes as shown in the table. [[Aminoglycoside]] can induce [[Bartter syndrome]] presenting with severe [[hypokalemia]], [[metabolic alkalosis]], and profound systemic manifestations. | ||
*The genes associated with Bartter syndrome play important roles in normal kidney function. The proteins produced from these genes are involved in the kidneys' reabsorption of salt. | ==Causes== | ||
*Mutations in any of the five genes impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance of ions in the body leads to the major features of Bartter syndrome. | *[[Bartter syndrome]] can be caused by [[mutations]] in at least five genes. | ||
*[[Mutations]] in the SLC12A1 gene cause type I. Type II results from [[mutations]] in the KCNJ1 gene. [[Mutations]] in the CLCNKB gene are responsible for type III. Type IV can result from [[mutations]] in the BSND gene or from a combination of [[mutations]] in the CLCNKA and CLCNKB genes as shown in the table. | |||
*The genes associated with [[Bartter syndrome]] play important roles in normal kidney function. The proteins produced from these genes are involved in the kidneys' reabsorption of salt. | |||
*[[Mutations]] in any of the five genes impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other charged atoms (ions), including [[potassium]] and [[calcium]]. The resulting imbalance of ions in the body leads to the major features of [[Bartter syndrome]].<ref name="urlBartter syndrome - Genetics Home Reference - NIH">{{cite web |url=https://ghr.nlm.nih.gov/condition/bartter-syndrome#genes |title=Bartter syndrome - Genetics Home Reference - NIH |format= |work= |accessdate=}}</ref> | |||
{| class="wikitable" | |||
|+Classification of [[Bartter syndrome]] on the basis of both genotype and phenotype<ref name="pmid18695706">{{cite journal| author=Seyberth HW| title=An improved terminology and classification of Bartter-like syndromes. | journal=Nat Clin Pract Nephrol | year= 2008 | volume= 4 | issue= 10 | pages= 560-7 | pmid=18695706 | doi=10.1038/ncpneph0912 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18695706 }} </ref><ref name="pmid26140272">{{cite journal| author=Al Shibli A, Narchi H| title=Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations. | journal=World J Methodol | year= 2015 | volume= 5 | issue= 2 | pages= 55-61 | pmid=26140272 | doi=10.5662/wjm.v5.i2.55 | pmc=4482822 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26140272 }} </ref> | |||
!Disorder | |||
!Gene affected | |||
!Gene product | |||
!Clinical presentation (phenotype) | |||
|- | |||
|Bartter syndrome type I | |||
|SLC12A1 | |||
|NKCC2 | |||
|Antenatal Bartter syndrome ([[hyperprostaglandin E syndrome]]) | |||
|- | |||
|Bartter syndrome type II | |||
|KCNJ1 | |||
|ROMK | |||
|Antenatal Bartter syndrome | |||
|- | |||
|Bartter syndrome type III | |||
|ClC-Kb | |||
|CLC-Kb | |||
|[[Hypochloremia]], mild [[hypomagnesemia]], [[failure to thrive]] in infancy | |||
|- | |||
|Bartter syndrome type IVA | |||
|BSND | |||
|Barttin (B-subunit of CLC-Ka and CLC-Kb) | |||
|Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and [[sensorineural deafness]] | |||
|- | |||
|Bartter syndrome type IVB | |||
|ClC-Ka and ClC-Kb | |||
|CLC-Ka and CLC-Kb | |||
|Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and [[sensorineural deafness]] | |||
|- | |||
|Bartter syndrome type V | |||
|CaSR gene | |||
|CaSR | |||
|Bartter syndrome with [[hypocalcemia]] | |||
|}<br /> | |||
*In some patients with [[Bartter syndrome]], the genetic cause of the disorder is unknown. Researchers are searching for additional genes that may be associated with this condition.<ref name="urlBartter syndrome - Genetics Home Reference - NIH">{{cite web |url=https://ghr.nlm.nih.gov/condition/bartter-syndrome#genes |title=Bartter syndrome - Genetics Home Reference - NIH |format= |work= |accessdate=}}</ref> | |||
*[[Aminoglycoside]] can induce [[Bartter syndrome]] presenting with severe [[hypokalemia]], [[metabolic alkalosis]], and profound systemic manifestations.<ref name="pmid12220510">{{cite journal| author=McLarnon S, Holden D, Ward D, Jones M, Elliott A, Riccardi D| title=Aminoglycoside antibiotics induce pH-sensitive activation of the calcium-sensing receptor. | journal=Biochem Biophys Res Commun | year= 2002 | volume= 297 | issue= 1 | pages= 71-7 | pmid=12220510 | doi=10.1016/s0006-291x(02)02133-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12220510 }} </ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 19:15, 5 August 2020
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Main article: Bartter syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]
Overview
Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes as shown in the table. Aminoglycoside can induce Bartter syndrome presenting with severe hypokalemia, metabolic alkalosis, and profound systemic manifestations.
Causes
- Bartter syndrome can be caused by mutations in at least five genes.
- Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes as shown in the table.
- The genes associated with Bartter syndrome play important roles in normal kidney function. The proteins produced from these genes are involved in the kidneys' reabsorption of salt.
- Mutations in any of the five genes impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance of ions in the body leads to the major features of Bartter syndrome.[1]
| Disorder | Gene affected | Gene product | Clinical presentation (phenotype) |
|---|---|---|---|
| Bartter syndrome type I | SLC12A1 | NKCC2 | Antenatal Bartter syndrome (hyperprostaglandin E syndrome) |
| Bartter syndrome type II | KCNJ1 | ROMK | Antenatal Bartter syndrome |
| Bartter syndrome type III | ClC-Kb | CLC-Kb | Hypochloremia, mild hypomagnesemia, failure to thrive in infancy |
| Bartter syndrome type IVA | BSND | Barttin (B-subunit of CLC-Ka and CLC-Kb) | Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and sensorineural deafness |
| Bartter syndrome type IVB | ClC-Ka and ClC-Kb | CLC-Ka and CLC-Kb | Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and sensorineural deafness |
| Bartter syndrome type V | CaSR gene | CaSR | Bartter syndrome with hypocalcemia |
- In some patients with Bartter syndrome, the genetic cause of the disorder is unknown. Researchers are searching for additional genes that may be associated with this condition.[1]
- Aminoglycoside can induce Bartter syndrome presenting with severe hypokalemia, metabolic alkalosis, and profound systemic manifestations.[4]
References
- ↑ 1.0 1.1 "Bartter syndrome - Genetics Home Reference - NIH".
- ↑ Seyberth HW (2008). "An improved terminology and classification of Bartter-like syndromes". Nat Clin Pract Nephrol. 4 (10): 560–7. doi:10.1038/ncpneph0912. PMID 18695706.
- ↑ Al Shibli A, Narchi H (2015). "Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations". World J Methodol. 5 (2): 55–61. doi:10.5662/wjm.v5.i2.55. PMC 4482822. PMID 26140272.
- ↑ McLarnon S, Holden D, Ward D, Jones M, Elliott A, Riccardi D (2002). "Aminoglycoside antibiotics induce pH-sensitive activation of the calcium-sensing receptor". Biochem Biophys Res Commun. 297 (1): 71–7. doi:10.1016/s0006-291x(02)02133-2. PMID 12220510.