Bartter's syndrome in Arabic children: review of 13 cases
Background: Bartter's syndrome (BS) is an inherited disease of renal potassium wasting characterized by hypokalemic alkalosis, normal blood pressure, vascular insensitivity to pressor agents and elevated plasma concentrations of renin and aldosterone. It is caused by generalized hyperplasia of...
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Veröffentlicht in: | Pediatrics international 1999-06, Vol.41 (3), p.299-303 |
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creator | Abdel‐Al, YASER KHALIL Badawi, MONA H Yaeesh, SUHAD A LATIF Habib, YOUSEF QASSIM Al‐Khuffash, FAISAL AFIF Al‐Najidi, Mohammed M Al‐Ghanim3 and A Khader |
description | Background: Bartter's syndrome (BS) is an inherited disease of renal potassium wasting characterized by hypokalemic alkalosis, normal blood pressure, vascular insensitivity to pressor agents and elevated plasma concentrations of renin and aldosterone. It is caused by generalized hyperplasia of the juxtaglomerular apparatus at the site of renin production caused by mutations in the Na–K–2Cl cotransporter gene, NKCC2. The objective of our study is to establish the prevalence and incidence of BS in Kuwait and to assess treatment modalities for it.
Methods and Results: Bartter's syndrome was diagnosed in 13 Kuwaiti children over a 14 year period (1981–1995) with the estimated incidence of 1.7/100 000 live births. The mean age at diagnosis was 9.3 months (range 2–32 months). There were five males and eight females (ratio 1:1.6). The mean duration of follow up was 5.6 years (1–14 years). Both consanguinity and familial history among our patients were high (69 and 54%, respectively). All patients had hypokalemia, hypochloremia with metabolic alkalosis, hyper‐reninemia and were normotensive. Clinical presentation was essentially similar to that in other series. Eleven patients (85%) had growth failure, two had nephrocalcinosis (15%) and one had renal failure. All patients were treated with supplemental potassium, an aldosterone antagonist (spironolactone) and a prostaglandin synthetase inhibitor (indomethacin or aspirin) sequentially. Significant catch‐up of growth (four patients) and increases in serum potassium (eight patients) were recorded after administration of indomethacin therapy. One patient died of severe pneumonia with respiratory failure from hypokalemic myopathy. Clinical presentation, inheritance, complications and therapy of BS are briefly discussed.
Conclusion: Bartter's syndrome is a rare disease, but should be considered in the differential diagnosis of other disorders with growth failure and/or hypokalemia. Early diagnosis, close follow up and compliance with treatment may lead to appropriate growth and development. |
doi_str_mv | 10.1046/j.1442-200x.1999.01056.x |
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Methods and Results: Bartter's syndrome was diagnosed in 13 Kuwaiti children over a 14 year period (1981–1995) with the estimated incidence of 1.7/100 000 live births. The mean age at diagnosis was 9.3 months (range 2–32 months). There were five males and eight females (ratio 1:1.6). The mean duration of follow up was 5.6 years (1–14 years). Both consanguinity and familial history among our patients were high (69 and 54%, respectively). All patients had hypokalemia, hypochloremia with metabolic alkalosis, hyper‐reninemia and were normotensive. Clinical presentation was essentially similar to that in other series. Eleven patients (85%) had growth failure, two had nephrocalcinosis (15%) and one had renal failure. All patients were treated with supplemental potassium, an aldosterone antagonist (spironolactone) and a prostaglandin synthetase inhibitor (indomethacin or aspirin) sequentially. Significant catch‐up of growth (four patients) and increases in serum potassium (eight patients) were recorded after administration of indomethacin therapy. One patient died of severe pneumonia with respiratory failure from hypokalemic myopathy. Clinical presentation, inheritance, complications and therapy of BS are briefly discussed.
Conclusion: Bartter's syndrome is a rare disease, but should be considered in the differential diagnosis of other disorders with growth failure and/or hypokalemia. Early diagnosis, close follow up and compliance with treatment may lead to appropriate growth and development.</description><identifier>ISSN: 1328-8067</identifier><identifier>EISSN: 1442-200X</identifier><identifier>DOI: 10.1046/j.1442-200x.1999.01056.x</identifier><identifier>PMID: 10365582</identifier><language>eng</language><publisher>Melbourne, Australia: Blackwell Science Pty</publisher><subject>Bartter Syndrome - diagnosis ; Bartter Syndrome - drug therapy ; Bartter Syndrome - epidemiology ; Bartter Syndrome - genetics ; Bartter Syndrome - metabolism ; Bartter's syndrome ; Consanguinity ; Cyclooxygenase Inhibitors - therapeutic use ; Diagnosis, Differential ; Drug Therapy, Combination ; Female ; Follow-Up Studies ; Growth Disorders - etiology ; Humans ; hypokalemic metabolic alkalosis ; Incidence ; Infant ; Kuwait - epidemiology ; Male ; Mineralocorticoid Receptor Antagonists - therapeutic use ; Mutation - genetics ; Nephrocalcinosis - etiology ; Population Surveillance ; Potassium - therapeutic use ; Prevalence</subject><ispartof>Pediatrics international, 1999-06, Vol.41 (3), p.299-303</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1046%2Fj.1442-200x.1999.01056.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1046%2Fj.1442-200x.1999.01056.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10365582$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Abdel‐Al, YASER KHALIL</creatorcontrib><creatorcontrib>Badawi, MONA H</creatorcontrib><creatorcontrib>Yaeesh, SUHAD A LATIF</creatorcontrib><creatorcontrib>Habib, YOUSEF QASSIM</creatorcontrib><creatorcontrib>Al‐Khuffash, FAISAL AFIF</creatorcontrib><creatorcontrib>Al‐Najidi, Mohammed M Al‐Ghanim3 and A Khader</creatorcontrib><title>Bartter's syndrome in Arabic children: review of 13 cases</title><title>Pediatrics international</title><addtitle>Pediatr Int</addtitle><description>Background: Bartter's syndrome (BS) is an inherited disease of renal potassium wasting characterized by hypokalemic alkalosis, normal blood pressure, vascular insensitivity to pressor agents and elevated plasma concentrations of renin and aldosterone. It is caused by generalized hyperplasia of the juxtaglomerular apparatus at the site of renin production caused by mutations in the Na–K–2Cl cotransporter gene, NKCC2. The objective of our study is to establish the prevalence and incidence of BS in Kuwait and to assess treatment modalities for it.
Methods and Results: Bartter's syndrome was diagnosed in 13 Kuwaiti children over a 14 year period (1981–1995) with the estimated incidence of 1.7/100 000 live births. The mean age at diagnosis was 9.3 months (range 2–32 months). There were five males and eight females (ratio 1:1.6). The mean duration of follow up was 5.6 years (1–14 years). Both consanguinity and familial history among our patients were high (69 and 54%, respectively). All patients had hypokalemia, hypochloremia with metabolic alkalosis, hyper‐reninemia and were normotensive. Clinical presentation was essentially similar to that in other series. Eleven patients (85%) had growth failure, two had nephrocalcinosis (15%) and one had renal failure. All patients were treated with supplemental potassium, an aldosterone antagonist (spironolactone) and a prostaglandin synthetase inhibitor (indomethacin or aspirin) sequentially. Significant catch‐up of growth (four patients) and increases in serum potassium (eight patients) were recorded after administration of indomethacin therapy. One patient died of severe pneumonia with respiratory failure from hypokalemic myopathy. Clinical presentation, inheritance, complications and therapy of BS are briefly discussed.
Conclusion: Bartter's syndrome is a rare disease, but should be considered in the differential diagnosis of other disorders with growth failure and/or hypokalemia. Early diagnosis, close follow up and compliance with treatment may lead to appropriate growth and development.</description><subject>Bartter Syndrome - diagnosis</subject><subject>Bartter Syndrome - drug therapy</subject><subject>Bartter Syndrome - epidemiology</subject><subject>Bartter Syndrome - genetics</subject><subject>Bartter Syndrome - metabolism</subject><subject>Bartter's syndrome</subject><subject>Consanguinity</subject><subject>Cyclooxygenase Inhibitors - therapeutic use</subject><subject>Diagnosis, Differential</subject><subject>Drug Therapy, Combination</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Growth Disorders - etiology</subject><subject>Humans</subject><subject>hypokalemic metabolic alkalosis</subject><subject>Incidence</subject><subject>Infant</subject><subject>Kuwait - epidemiology</subject><subject>Male</subject><subject>Mineralocorticoid Receptor Antagonists - therapeutic use</subject><subject>Mutation - genetics</subject><subject>Nephrocalcinosis - etiology</subject><subject>Population Surveillance</subject><subject>Potassium - therapeutic use</subject><subject>Prevalence</subject><issn>1328-8067</issn><issn>1442-200X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkEtLw0AUhQdRbK3-BZmVrhLnnYngotb6gIIuFNwNk8wNpuRRZxrb_nsb24Kre-B8HLgfQpiSmBKhbuYxFYJFjJB1TNM0jQklUsXrIzQ8FJ_H28yZjjRRyQCdhTAnhOhEi1M0oIQrKTUbovTe-uUS_HXAYdM439aAywaPvc3KHOdfZeU8NLfYw08JK9wWmHKc2wDhHJ0Utgpwsb8j9PE4fZ88R7PXp5fJeBYtaMpVVEjFKCjIqOBSkEyRjFHKkqRwVnBnSQGFy0UmUi0zmVhhrcytZYWTwmnF-Qhd7XYXvv3uICxNXYYcqso20HbBqFRTxQXdgpd7sMtqcGbhy9r6jTk8uwXudsCqrGDzrze9VDM3vTvTSzW9VPMn1azN2_ShT_wX1OBpbQ</recordid><startdate>199906</startdate><enddate>199906</enddate><creator>Abdel‐Al, YASER KHALIL</creator><creator>Badawi, MONA H</creator><creator>Yaeesh, SUHAD A LATIF</creator><creator>Habib, YOUSEF QASSIM</creator><creator>Al‐Khuffash, FAISAL AFIF</creator><creator>Al‐Najidi, Mohammed M Al‐Ghanim3 and A Khader</creator><general>Blackwell Science Pty</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>199906</creationdate><title>Bartter's syndrome in Arabic children: review of 13 cases</title><author>Abdel‐Al, YASER KHALIL ; Badawi, MONA H ; Yaeesh, SUHAD A LATIF ; Habib, YOUSEF QASSIM ; Al‐Khuffash, FAISAL AFIF ; Al‐Najidi, Mohammed M Al‐Ghanim3 and A Khader</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p1936-f5621e6eb143540b60b211277fda43da0fefdc4b4985b57a4aa5caa2fd54d8633</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Bartter Syndrome - diagnosis</topic><topic>Bartter Syndrome - drug therapy</topic><topic>Bartter Syndrome - epidemiology</topic><topic>Bartter Syndrome - genetics</topic><topic>Bartter Syndrome - metabolism</topic><topic>Bartter's syndrome</topic><topic>Consanguinity</topic><topic>Cyclooxygenase Inhibitors - therapeutic use</topic><topic>Diagnosis, Differential</topic><topic>Drug Therapy, Combination</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Growth Disorders - etiology</topic><topic>Humans</topic><topic>hypokalemic metabolic alkalosis</topic><topic>Incidence</topic><topic>Infant</topic><topic>Kuwait - epidemiology</topic><topic>Male</topic><topic>Mineralocorticoid Receptor Antagonists - therapeutic use</topic><topic>Mutation - genetics</topic><topic>Nephrocalcinosis - etiology</topic><topic>Population Surveillance</topic><topic>Potassium - therapeutic use</topic><topic>Prevalence</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Abdel‐Al, YASER KHALIL</creatorcontrib><creatorcontrib>Badawi, MONA H</creatorcontrib><creatorcontrib>Yaeesh, SUHAD A LATIF</creatorcontrib><creatorcontrib>Habib, YOUSEF QASSIM</creatorcontrib><creatorcontrib>Al‐Khuffash, FAISAL AFIF</creatorcontrib><creatorcontrib>Al‐Najidi, Mohammed M Al‐Ghanim3 and A Khader</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatrics international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Abdel‐Al, YASER KHALIL</au><au>Badawi, MONA H</au><au>Yaeesh, SUHAD A LATIF</au><au>Habib, YOUSEF QASSIM</au><au>Al‐Khuffash, FAISAL AFIF</au><au>Al‐Najidi, Mohammed M Al‐Ghanim3 and A Khader</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Bartter's syndrome in Arabic children: review of 13 cases</atitle><jtitle>Pediatrics international</jtitle><addtitle>Pediatr Int</addtitle><date>1999-06</date><risdate>1999</risdate><volume>41</volume><issue>3</issue><spage>299</spage><epage>303</epage><pages>299-303</pages><issn>1328-8067</issn><eissn>1442-200X</eissn><abstract>Background: Bartter's syndrome (BS) is an inherited disease of renal potassium wasting characterized by hypokalemic alkalosis, normal blood pressure, vascular insensitivity to pressor agents and elevated plasma concentrations of renin and aldosterone. It is caused by generalized hyperplasia of the juxtaglomerular apparatus at the site of renin production caused by mutations in the Na–K–2Cl cotransporter gene, NKCC2. The objective of our study is to establish the prevalence and incidence of BS in Kuwait and to assess treatment modalities for it.
Methods and Results: Bartter's syndrome was diagnosed in 13 Kuwaiti children over a 14 year period (1981–1995) with the estimated incidence of 1.7/100 000 live births. The mean age at diagnosis was 9.3 months (range 2–32 months). There were five males and eight females (ratio 1:1.6). The mean duration of follow up was 5.6 years (1–14 years). Both consanguinity and familial history among our patients were high (69 and 54%, respectively). All patients had hypokalemia, hypochloremia with metabolic alkalosis, hyper‐reninemia and were normotensive. Clinical presentation was essentially similar to that in other series. Eleven patients (85%) had growth failure, two had nephrocalcinosis (15%) and one had renal failure. All patients were treated with supplemental potassium, an aldosterone antagonist (spironolactone) and a prostaglandin synthetase inhibitor (indomethacin or aspirin) sequentially. Significant catch‐up of growth (four patients) and increases in serum potassium (eight patients) were recorded after administration of indomethacin therapy. One patient died of severe pneumonia with respiratory failure from hypokalemic myopathy. Clinical presentation, inheritance, complications and therapy of BS are briefly discussed.
Conclusion: Bartter's syndrome is a rare disease, but should be considered in the differential diagnosis of other disorders with growth failure and/or hypokalemia. Early diagnosis, close follow up and compliance with treatment may lead to appropriate growth and development.</abstract><cop>Melbourne, Australia</cop><pub>Blackwell Science Pty</pub><pmid>10365582</pmid><doi>10.1046/j.1442-200x.1999.01056.x</doi><tpages>5</tpages></addata></record> |
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subjects | Bartter Syndrome - diagnosis Bartter Syndrome - drug therapy Bartter Syndrome - epidemiology Bartter Syndrome - genetics Bartter Syndrome - metabolism Bartter's syndrome Consanguinity Cyclooxygenase Inhibitors - therapeutic use Diagnosis, Differential Drug Therapy, Combination Female Follow-Up Studies Growth Disorders - etiology Humans hypokalemic metabolic alkalosis Incidence Infant Kuwait - epidemiology Male Mineralocorticoid Receptor Antagonists - therapeutic use Mutation - genetics Nephrocalcinosis - etiology Population Surveillance Potassium - therapeutic use Prevalence |
title | Bartter's syndrome in Arabic children: review of 13 cases |
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