An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature
Abstract. Bartter syndrome is a group of autosomal recessive renal tubular disorders; it has two types of presentation: antenatal and classic. The antenatal type presents as severe unexplained polyhydramnios in the second trimester. This is due to fetal urinary losses of sodium, chloride, and potass...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Health
2023-04-01
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| Series: | Maternal-Fetal Medicine |
| Online Access: | http://journals.lww.com/10.1097/FM9.0000000000000182 |
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| author | Aleena M. Shajan Manish Kumar Preethi Navaneethan Sumita Danda Manisha M. Beck Yang Pan |
| author_facet | Aleena M. Shajan Manish Kumar Preethi Navaneethan Sumita Danda Manisha M. Beck Yang Pan |
| author_sort | Aleena M. Shajan |
| collection | DOAJ |
| description | Abstract. Bartter syndrome is a group of autosomal recessive renal tubular disorders; it has two types of presentation: antenatal and classic. The antenatal type presents as severe unexplained polyhydramnios in the second trimester. This is due to fetal urinary losses of sodium, chloride, and potassium, leading to fetal polyuria. The classic type presents in the late neonatal or infancy stage, with dehydration, dyselectrolytemia, failure to thrive, and nephrocalcinosis. Antenatal scans are normal in such cases. Type I and II Bartter syndrome presents in the antenatal period, whereas type IV has a classic presentation. We describe an unusual case of type IVa Bartter syndrome presenting in the antenatal period, with severe polyhydramnios. The initial diagnosis was made based on amniotic fluid chloride levels and later confirmed by performing a genetic test. Genetic testing is important for confirming diagnosis and prognostication regarding the condition. |
| format | Article |
| id | doaj-art-d50dcd992c1b429db9de86c6e3b209e4 |
| institution | Kabale University |
| issn | 2096-6954 2641-5895 |
| language | English |
| publishDate | 2023-04-01 |
| publisher | Wolters Kluwer Health |
| record_format | Article |
| series | Maternal-Fetal Medicine |
| spelling | doaj-art-d50dcd992c1b429db9de86c6e3b209e42025-08-20T03:48:23ZengWolters Kluwer HealthMaternal-Fetal Medicine2096-69542641-58952023-04-015212813010.1097/FM9.0000000000000182202304000-00012An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of LiteratureAleena M. Shajan0Manish Kumar1Preethi Navaneethan2Sumita Danda3Manisha M. Beck4Yang Pan1 Fetal Medicine Unit, Department of ObGyn, Christian Medical College and Hospital, Vellore, Tamil Nadu 632004, India2 Department of Neonatology, Christian Medical College and Hospital, Vellore, Tamil Nadu 632004, India1 Fetal Medicine Unit, Department of ObGyn, Christian Medical College and Hospital, Vellore, Tamil Nadu 632004, India3 Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu 632004, India.1 Fetal Medicine Unit, Department of ObGyn, Christian Medical College and Hospital, Vellore, Tamil Nadu 632004, IndiaAbstract. Bartter syndrome is a group of autosomal recessive renal tubular disorders; it has two types of presentation: antenatal and classic. The antenatal type presents as severe unexplained polyhydramnios in the second trimester. This is due to fetal urinary losses of sodium, chloride, and potassium, leading to fetal polyuria. The classic type presents in the late neonatal or infancy stage, with dehydration, dyselectrolytemia, failure to thrive, and nephrocalcinosis. Antenatal scans are normal in such cases. Type I and II Bartter syndrome presents in the antenatal period, whereas type IV has a classic presentation. We describe an unusual case of type IVa Bartter syndrome presenting in the antenatal period, with severe polyhydramnios. The initial diagnosis was made based on amniotic fluid chloride levels and later confirmed by performing a genetic test. Genetic testing is important for confirming diagnosis and prognostication regarding the condition.http://journals.lww.com/10.1097/FM9.0000000000000182 |
| spellingShingle | Aleena M. Shajan Manish Kumar Preethi Navaneethan Sumita Danda Manisha M. Beck Yang Pan An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature Maternal-Fetal Medicine |
| title | An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature |
| title_full | An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature |
| title_fullStr | An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature |
| title_full_unstemmed | An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature |
| title_short | An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature |
| title_sort | unusual case of bsnd gene related type iv bartter syndrome presenting as antenatal bartter syndrome a case report and review of literature |
| url | http://journals.lww.com/10.1097/FM9.0000000000000182 |
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