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==Overview== | ==Overview== | ||
[[Bartter syndrome]] is an autosomal recessive disorder that often presents in childhood and may be associated with stunted growth, mental retardation, hypokalemia, metabolic alkalosis, polyuria and polydipsia, normal to increased urinary calcium excretion, normal or mildly decreased serum magnesium concentration, hypophosphatemia and hypercalciuria | [[Bartter syndrome]] is an autosomal recessive disorder that often presents in childhood and may be associated with [[stunted growth]], [[mental retardation]], [[hypokalemia]], [[metabolic alkalosis]], [[polyuria]] and [[polydipsia]], normal to increased urinary [[calcium]] excretion, normal or mildly decreased serum [[magnesium]] concentration, [[hypophosphatemia]] and [[hypercalciuria]]. | ||
==History and Symptoms== | ==History and Symptoms== | ||
[[Bartter syndrome]] is an autosomal recessive disorder that often presents in childhood and may be associated with the following clinical features: | [[Bartter syndrome]] is an autosomal recessive disorder that often presents in childhood and may be associated with the following clinical features: | ||
*Stunted growth and mental retardation<ref name="pmid4046329">{{cite journal| author=Stein JH| title=The pathogenetic spectrum of Bartter's syndrome. | journal=Kidney Int | year= 1985 | volume= 28 | issue= 1 | pages= 85-93 | pmid=4046329 | doi=10.1038/ki.1985.123 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4046329 }} </ref><ref name="pmid1731022">{{cite journal| author=Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC | display-authors=etal| title=Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. | journal=J Pediatr | year= 1992 | volume= 120 | issue= 1 | pages= 38-43 | pmid=1731022 | doi=10.1016/s0022-3476(05)80594-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1731022 }} </ref> | *[[Stunted growth]] and [[mental retardation]]<ref name="pmid4046329">{{cite journal| author=Stein JH| title=The pathogenetic spectrum of Bartter's syndrome. | journal=Kidney Int | year= 1985 | volume= 28 | issue= 1 | pages= 85-93 | pmid=4046329 | doi=10.1038/ki.1985.123 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4046329 }} </ref><ref name="pmid1731022">{{cite journal| author=Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC | display-authors=etal| title=Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. | journal=J Pediatr | year= 1992 | volume= 120 | issue= 1 | pages= 38-43 | pmid=1731022 | doi=10.1016/s0022-3476(05)80594-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1731022 }} </ref> | ||
*Hypokalemia | *[[Hypokalemia]] | ||
*Metabolic alkalosis | *[[Metabolic alkalosis]] | ||
*Polyuria and polydipsia due to decreased urinary concentrating ability<ref name="pmid4046329">{{cite journal| author=Stein JH| title=The pathogenetic spectrum of Bartter's syndrome. | journal=Kidney Int | year= 1985 | volume= 28 | issue= 1 | pages= 85-93 | pmid=4046329 | doi=10.1038/ki.1985.123 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4046329 }} </ref><ref name="pmid1731022">{{cite journal| author=Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC | display-authors=etal| title=Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. | journal=J Pediatr | year= 1992 | volume= 120 | issue= 1 | pages= 38-43 | pmid=1731022 | doi=10.1016/s0022-3476(05)80594-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1731022 }} </ref> | *[[Polyuria and polydipsia]] due to decreased urinary concentrating ability<ref name="pmid4046329">{{cite journal| author=Stein JH| title=The pathogenetic spectrum of Bartter's syndrome. | journal=Kidney Int | year= 1985 | volume= 28 | issue= 1 | pages= 85-93 | pmid=4046329 | doi=10.1038/ki.1985.123 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4046329 }} </ref><ref name="pmid1731022">{{cite journal| author=Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC | display-authors=etal| title=Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. | journal=J Pediatr | year= 1992 | volume= 120 | issue= 1 | pages= 38-43 | pmid=1731022 | doi=10.1016/s0022-3476(05)80594-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1731022 }} </ref> | ||
*Normal to increased urinary calcium excretion | *Normal to increased urinary calcium excretion | ||
*Normal or mildly decreased serum magnesium concentration<ref name="pmid1731022">{{cite journal| author=Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC | display-authors=etal| title=Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. | journal=J Pediatr | year= 1992 | volume= 120 | issue= 1 | pages= 38-43 | pmid=1731022 | doi=10.1016/s0022-3476(05)80594-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1731022 }} </ref> | *Normal or mildly decreased serum [[magnesium]] concentration<ref name="pmid1731022">{{cite journal| author=Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC | display-authors=etal| title=Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. | journal=J Pediatr | year= 1992 | volume= 120 | issue= 1 | pages= 38-43 | pmid=1731022 | doi=10.1016/s0022-3476(05)80594-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1731022 }} </ref> | ||
*Hypophosphatemia in occasional patients<ref name="pmid1731022">{{cite journal| author=Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC | display-authors=etal| title=Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. | journal=J Pediatr | year= 1992 | volume= 120 | issue= 1 | pages= 38-43 | pmid=1731022 | doi=10.1016/s0022-3476(05)80594-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1731022 }} </ref><ref name="pmid120550">{{cite journal| author=Dillon MJ, Shah V, Mitchell MD| title=Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy. | journal=Q J Med | year= 1979 | volume= 48 | issue= 191 | pages= 429-46 | pmid=120550 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=120550 }} </ref><ref name="pmid711493">{{cite journal| author=Sann L, David L, Bernheim J, François R| title=Hypophosphatemia and hyperparathyroidism in a case of Bartter's syndrome. | journal=Helv Paediatr Acta | year= 1978 | volume= 33 | issue= 3 | pages= 299-310 | pmid=711493 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=711493 }} </ref>, with secondary hyperparathyroidism being a possible mechanism.<ref name="pmid711493">{{cite journal| author=Sann L, David L, Bernheim J, François R| title=Hypophosphatemia and hyperparathyroidism in a case of Bartter's syndrome. | journal=Helv Paediatr Acta | year= 1978 | volume= 33 | issue= 3 | pages= 299-310 | pmid=711493 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=711493 }} </ref> | *[[Hypophosphatemia]] in occasional patients<ref name="pmid1731022">{{cite journal| author=Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC | display-authors=etal| title=Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. | journal=J Pediatr | year= 1992 | volume= 120 | issue= 1 | pages= 38-43 | pmid=1731022 | doi=10.1016/s0022-3476(05)80594-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1731022 }} </ref><ref name="pmid120550">{{cite journal| author=Dillon MJ, Shah V, Mitchell MD| title=Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy. | journal=Q J Med | year= 1979 | volume= 48 | issue= 191 | pages= 429-46 | pmid=120550 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=120550 }} </ref><ref name="pmid711493">{{cite journal| author=Sann L, David L, Bernheim J, François R| title=Hypophosphatemia and hyperparathyroidism in a case of Bartter's syndrome. | journal=Helv Paediatr Acta | year= 1978 | volume= 33 | issue= 3 | pages= 299-310 | pmid=711493 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=711493 }} </ref>, with secondary hyperparathyroidism being a possible mechanism.<ref name="pmid711493">{{cite journal| author=Sann L, David L, Bernheim J, François R| title=Hypophosphatemia and hyperparathyroidism in a case of Bartter's syndrome. | journal=Helv Paediatr Acta | year= 1978 | volume= 33 | issue= 3 | pages= 299-310 | pmid=711493 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=711493 }} </ref> | ||
*Large amounts of [[calcium]] are lost through the urine ([[hypercalciuria]]), which can cause weakening of the bones ([[osteopenia]]).<ref name="urlBartter syndrome - Genetics Home Reference - NIH">{{cite web |url=https://ghr.nlm.nih.gov/condition/bartter-syndrome#synonyms |title=Bartter syndrome - Genetics Home Reference - NIH |format= |work= |accessdate=}}</ref> | *Large amounts of [[calcium]] are lost through the urine ([[hypercalciuria]]), which can cause weakening of the bones ([[osteopenia]]).<ref name="urlBartter syndrome - Genetics Home Reference - NIH">{{cite web |url=https://ghr.nlm.nih.gov/condition/bartter-syndrome#synonyms |title=Bartter syndrome - Genetics Home Reference - NIH |format= |work= |accessdate=}}</ref> | ||
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*Researchers induced mutations in the loop diuretic-sensitive sodium-potassium- chloride cotransporter (NKCC2). They found a normal range of blood pressure and fluid balance among heterozygous mice.<ref name="pmid11856763">{{cite journal| author=Takahashi N, Brooks HL, Wade JB, Liu W, Kondo Y, Ito S | display-authors=etal| title=Posttranscriptional compensation for heterozygous disruption of the kidney-specific NaK2Cl cotransporter gene. | journal=J Am Soc Nephrol | year= 2002 | volume= 13 | issue= 3 | pages= 604-10 | pmid=11856763 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11856763 }} </ref> | *Researchers induced mutations in the loop diuretic-sensitive sodium-potassium- chloride cotransporter (NKCC2). They found a normal range of blood pressure and fluid balance among heterozygous mice.<ref name="pmid11856763">{{cite journal| author=Takahashi N, Brooks HL, Wade JB, Liu W, Kondo Y, Ito S | display-authors=etal| title=Posttranscriptional compensation for heterozygous disruption of the kidney-specific NaK2Cl cotransporter gene. | journal=J Am Soc Nephrol | year= 2002 | volume= 13 | issue= 3 | pages= 604-10 | pmid=11856763 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11856763 }} </ref> | ||
==References== | ==References== | ||
Latest revision as of 20:30, 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 is an autosomal recessive disorder that often presents in childhood and may be associated with stunted growth, mental retardation, hypokalemia, metabolic alkalosis, polyuria and polydipsia, normal to increased urinary calcium excretion, normal or mildly decreased serum magnesium concentration, hypophosphatemia and hypercalciuria.
History and Symptoms
Bartter syndrome is an autosomal recessive disorder that often presents in childhood and may be associated with the following clinical features:
- Stunted growth and mental retardation[1][2]
- Hypokalemia
- Metabolic alkalosis
- Polyuria and polydipsia due to decreased urinary concentrating ability[1][2]
- Normal to increased urinary calcium excretion
- Normal or mildly decreased serum magnesium concentration[2]
- Hypophosphatemia in occasional patients[2][3][4], with secondary hyperparathyroidism being a possible mechanism.[4]
- Large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia).[5]
The clinical manifestations are much less pronounced in heterozygotes.
- Researchers induced mutations in the loop diuretic-sensitive sodium-potassium- chloride cotransporter (NKCC2). They found a normal range of blood pressure and fluid balance among heterozygous mice.[6]
References
- ↑ 1.0 1.1 Stein JH (1985). "The pathogenetic spectrum of Bartter's syndrome". Kidney Int. 28 (1): 85–93. doi:10.1038/ki.1985.123. PMID 4046329.
- ↑ 2.0 2.1 2.2 2.3 Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC; et al. (1992). "Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes". J Pediatr. 120 (1): 38–43. doi:10.1016/s0022-3476(05)80594-3. PMID 1731022.
- ↑ Dillon MJ, Shah V, Mitchell MD (1979). "Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy". Q J Med. 48 (191): 429–46. PMID 120550.
- ↑ 4.0 4.1 Sann L, David L, Bernheim J, François R (1978). "Hypophosphatemia and hyperparathyroidism in a case of Bartter's syndrome". Helv Paediatr Acta. 33 (3): 299–310. PMID 711493.
- ↑ "Bartter syndrome - Genetics Home Reference - NIH".
- ↑ Takahashi N, Brooks HL, Wade JB, Liu W, Kondo Y, Ito S; et al. (2002). "Posttranscriptional compensation for heterozygous disruption of the kidney-specific NaK2Cl cotransporter gene". J Am Soc Nephrol. 13 (3): 604–10. PMID 11856763.