Inherited renal tubular defects with hypokalemia
Bartter′s and Gitelman′s syndrome are two ends of a spectrum of inherited renal tubular disorders that present with hypokalemic metabolic alkalosis of varying severity. Clinical features and associated calcium and magnesium ion abnormalities are used to diagnose these cases aft...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2009-01-01
|
| Series: | Saudi Journal of Kidney Diseases and Transplantation |
| Subjects: | |
| Online Access: | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2009;volume=20;issue=2;spage=274;epage=277;aulast=Muthukrishnan |
| _version_ | 1819029996919848960 |
|---|---|
| author | Muthukrishnan J Modi K Kumar P Jha Ratan |
| author_facet | Muthukrishnan J Modi K Kumar P Jha Ratan |
| author_sort | Muthukrishnan J |
| collection | DOAJ |
| description | Bartter′s and Gitelman′s syndrome are two ends of a spectrum of inherited renal tubular disorders that present with hypokalemic metabolic alkalosis of varying severity. Clinical features and associated calcium and magnesium ion abnormalities are used to diagnose these cases after excluding other commoner causes. We report on two cases, the first being a young boy, born of pregnancy complicated by polyhydramnios, who had classical dysmorphic features, polyuria, hypokalemia and hypercalciuria and was diagnosed as having Bartter′s syndrome. The second patient is a lady who had recurrent tetany as the only manifestation of Gitelman′s syndrome, which is an unusual presentation. Potassium replacement with supplementation of other deficient ions led to satisfactory clinical and biochemical response. |
| first_indexed | 2024-12-21T06:23:08Z |
| format | Article |
| id | doaj.art-294c0df0c65b4827b12282d2f23cdd24 |
| institution | Directory Open Access Journal |
| issn | 1319-2442 |
| language | English |
| last_indexed | 2024-12-21T06:23:08Z |
| publishDate | 2009-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Saudi Journal of Kidney Diseases and Transplantation |
| spelling | doaj.art-294c0df0c65b4827b12282d2f23cdd242022-12-21T19:13:11ZengWolters Kluwer Medknow PublicationsSaudi Journal of Kidney Diseases and Transplantation1319-24422009-01-01202274277Inherited renal tubular defects with hypokalemiaMuthukrishnan JModi KKumar PJha RatanBartter′s and Gitelman′s syndrome are two ends of a spectrum of inherited renal tubular disorders that present with hypokalemic metabolic alkalosis of varying severity. Clinical features and associated calcium and magnesium ion abnormalities are used to diagnose these cases after excluding other commoner causes. We report on two cases, the first being a young boy, born of pregnancy complicated by polyhydramnios, who had classical dysmorphic features, polyuria, hypokalemia and hypercalciuria and was diagnosed as having Bartter′s syndrome. The second patient is a lady who had recurrent tetany as the only manifestation of Gitelman′s syndrome, which is an unusual presentation. Potassium replacement with supplementation of other deficient ions led to satisfactory clinical and biochemical response.http://www.sjkdt.org/article.asp?issn=1319-2442;year=2009;volume=20;issue=2;spage=274;epage=277;aulast=MuthukrishnanBartter′s syndromeGitelman′s syndromeHypokalemia |
| spellingShingle | Muthukrishnan J Modi K Kumar P Jha Ratan Inherited renal tubular defects with hypokalemia Saudi Journal of Kidney Diseases and Transplantation Bartter′s syndrome Gitelman′s syndrome Hypokalemia |
| title | Inherited renal tubular defects with hypokalemia |
| title_full | Inherited renal tubular defects with hypokalemia |
| title_fullStr | Inherited renal tubular defects with hypokalemia |
| title_full_unstemmed | Inherited renal tubular defects with hypokalemia |
| title_short | Inherited renal tubular defects with hypokalemia |
| title_sort | inherited renal tubular defects with hypokalemia |
| topic | Bartter′s syndrome Gitelman′s syndrome Hypokalemia |
| url | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2009;volume=20;issue=2;spage=274;epage=277;aulast=Muthukrishnan |
| work_keys_str_mv | AT muthukrishnanj inheritedrenaltubulardefectswithhypokalemia AT modik inheritedrenaltubulardefectswithhypokalemia AT kumarp inheritedrenaltubulardefectswithhypokalemia AT jharatan inheritedrenaltubulardefectswithhypokalemia |