Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & ISI's SCI  
Users online: 323  
Home | Subscribe | Feedback | Login 
About Latest Articles Back-Issues Article Submission Resources Sections Etcetera Contact
 
  NAVIGATE Here 
  Search
 
 :: Next article
 :: Previous article 
 :: Table of Contents
  
 RESOURCE Links
 ::  Similar in PUBMED
 ::  Search Pubmed for
 ::  Search in Google Scholar for
 ::Related articles
 ::  Article in PDF (21 KB)
 ::  Citation Manager
 ::  Access Statistics
 ::  Reader Comments
 ::  Email Alert *
 ::  Add to My List *
* Registration required (free) 

  IN THIS Article
 ::  Introduction
 ::  Case report
 ::  Discussion
 ::  Acknowledgment
 ::  References
 ::  Article Tables

 Article Access Statistics
    Viewed11661    
    Printed190    
    Emailed4    
    PDF Downloaded184    
    Comments [Add]    
    Cited by others 1    

Recommend this journal


 


 
CASE REPORT
Year : 1992  |  Volume : 38  |  Issue : 1  |  Page : 41-3

Bartter's syndrome: a neonatal presentation (a case report).


Department of Paediatrics, K.E.M. Hospital, Seth G.S. Medical Collage, Parel, Bombay.

Correspondence Address:
C P Contractor
Department of Paediatrics, K.E.M. Hospital, Seth G.S. Medical Collage, Parel, Bombay.

Login to access the Email id

Source of Support: None, Conflict of Interest: None


PMID: 0001512727

Rights and PermissionsRights and Permissions



Keywords: Bartter′s Disease, diagnosis,genetics,Case Report, Consanguinity, Electrolytes, urine,Follow-Up Studies, Human, Indomethacin, administration &dosage,Infant, Newborn, Infant, Premature, Diseases, diagnosis,genetics,


How to cite this article:
Contractor C P, Mehta S D, Wagle S U, Desphande P G, Irani S F. Bartter's syndrome: a neonatal presentation (a case report). J Postgrad Med 1992;38:41

How to cite this URL:
Contractor C P, Mehta S D, Wagle S U, Desphande P G, Irani S F. Bartter's syndrome: a neonatal presentation (a case report). J Postgrad Med [serial online] 1992 [cited 2019 Jun 18];38:41. Available from: http://www.jpgmonline.com/text.asp?1992/38/1/41/730





  ::   Introduction Top


Bartter's syndrome is a rare metabolic disorder resulting due to excess loss of chlorides from the nephron. It is characterised by persistent hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia with hyperaidosteronism in the absence of hypertension and refractoriness of angio tension-II[1].

We are reporting herewith a case of Bartter's syndrome diagnosed in the neonatal period. There are very few reports of neonatal presentation in the world literature[2].


  ::   Case report Top


A 34 week premature baby was born of second degree consanguineous marriage by an emergency LSCS for abruptio placentae. The mother was gravida 2, para 2 and had polyhydramnios during this as well as previous pregnancy. The investigations done during antenatal period failed to reveal the cause of polyhydramnios. The baby required no resuscitation at birth and weighed 2.1 kg. The clinical and radiological examination did not reveal any malformations of the gut or spine. The previous sibling born of full term normal delivery had a history of failure to thrive during neonatal period and died of severe dehydration of unexplained etiology at the age of 1 ½ months.

The present case also did not show a satisfactory weight gain in the first two weeks of life, inspite of supervised feeding. The baby had occasional vomiting with poor activity and weak suck. The systemic examination was normal. There was no evidence of sepsis detected on septic screen. The investigation findings are presented in [Table - 1], [Table - 2] & [Table - 3]. The metabolic parameters revealed hypokalemia, hypochloremic metabolic alkalosis with hyponatremia. Further investigations showed excessive loss of sodium, potassium and chloride in urine. Hence Bartter's syndrome was suspected[3]. The child was normotensive. The diagnosis was confirmed by raised plasma renin activity and plasma aidosterone level[4] [Table - 3].

The child was put on potassium (12 meq/kg/day) and sodium (2 gm/lg/day) supplementation initially and subsequently indomethaciri (2 mglkg/day) was added to the regimen in three divided doses. On this therapy, the child demonstrated remarkable improvement in activity and weight gain, The sodium and potassium requirements reduced after indomethacin therapy.

The child when followed up at the age of 4 months was developmentally normal and had thrived well.


  ::   Discussion Top


The biochemical picture of hypokalemic hypochloremic alkalosis suggests possibility of prima or secondary hyperaidolesteronism. Of the former, primary mineralo-corticold excess and laddle's syndrome are excluded by absence of hypertension and high or normal plasma sodium levels[5]. In the latter, when no cause can be identified such as vomiting, diarrhoea, abuse of diuretics or laxatives the conditions that remain to be differentiated are Bartter's syndrome and Gitelman's syndrome (primary renal magnesium wasting). Absence of tetany and normal serum calcium rule our of Gitelman's syndrome[3].

Since the description of this syndrome in 1962 by Bartter et al[1], over 100 cases have been reported in the literature describing a wide spectrum of clinical and biochemical features. They are hypereateemia[3], hyperphosphatemia[3], hypercalciuria[6], nephrocalcinosis[6], rickets[7], magnesium deficiency[8], defective renal tubular acidification[9], excess renal prostaqiandin production[10],[11] defects in platelet aggregation[12], and juxtaglomerular and renomedullary cell hyperplasia[1]. Thomas et al[13] have described typical characteristic facies in two infants with this syndrome.

The majority of patients present with failure to thrive vomiting and constipation during the first 2 years of life[3].

History of polyhydramnios in a previous sib with death following dehydration may suggest autosomal recessive pattern of inheritance of this syndrome[6],[14].

There is no unifying hypothesis that explains the range of abnormalities seen in Bartter's syndrome. The most accepted being the primary abnormality in electrolyte transfer across the muscle, RBC and renal tubular cell membrane[3]. The defective chloride reabsorption in ascending limb or Henle's loop is the most proximal defect in the kidney[15].

The treatment of Bartter's syndrome consists of sodium and potassium supplementation with indomethacin in doses of 2-5 mg/kg/day[16]. Renin suppressing agents like methyIdopa and propranol do not appear to be useful. Spiranolactone and triameterence have also been used.

Indomethacin needs to be continued till growth is complete[6].


  ::   Acknowledgment Top


The authors wish to thank Dr. GB Parulkar, Dean, King Edward Memorial Hospital, for allowing us to publish the above article.

 
 :: References Top

1. Bartter PC, Pronove P, Gill JR, MacCardle RC (with tech. assistance of Diller E): Hyperplasia of the juxtraglomerular complex with hyperaidosteronism and hypokalemic alkalosis A new syndrome Amer J Med 1962; 33:811-828.  Back to cited text no. 1    
2.Daga SR, Patole S, Deokate S, Bhatnagar S. Bartter's syndrome in newborn treated with indomethacin. Indian Pediatr 1989; 26:79-81.  Back to cited text no. 2    
3.Dillon MJ. Disorders of renal tubular handling of sodium and potassium. In: MA Holliday, TM Barrott, BL Vernier, Editors. Pediatric Nephrology, 2nd edition. Williams and Wilkins; 1987, pp 598-605.  Back to cited text no. 3    
4.Dillon MJ, Gillin ME, Ryness JM. Plasma renin activity and alclosterone concentration in the human newborn. Arch Dis Child 1976; 51:537-540.  Back to cited text no. 4    
5.Schwartz GJ, Spitzer K. Disorders of renal transport of sodium, potassium and magnesium. In Pediatric Kidney Disease, Vol. 2, 1st edition. CM Edlemann Jr, editor. Philadelphia: Little Brown and Co; 1975, pp 1079-1093.  Back to cited text no. 5    
6.Dillon MJ, Shah V, Mitchell MD. Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy. Quat J Med 1979; 48:429-436.  Back to cited text no. 6    
7.Ogihara T, Maruyama A, Nugent CA, Mata T, Mikami H, Kumahara. Familial Bartler's syndrome. Arch Intern Med 1972; 142:906-908.  Back to cited text no. 7    
8.Mace JW, Hambidge KM, Gotlin RW. Magnesium supplementation in Bartter's syndrome. Arch Dis Child 1973; 48:485-487.  Back to cited text no. 8    
9.Donker AJM, de Long PE, Statins van Eps LW. Indomethacin in Bartter's syndrome. Does the syndrome represent a state of hyperprostaglandinism? Nephron 1977; 19:300-305.  Back to cited text no. 9    
10.Fichman MP, Telfer N, Zia P, Speckart P, Golub M, Rude R. Role of prostaglan ' dings in the pathogenesis of Bartter's syndrome. Amer J Med 1976; 60:785-797.  Back to cited text no. 10    
11.Gill JR, Frolich JC, Bowden RE, Taylor AA, Keiser, HR, Seyberth HW, Oates JA, Bartter FC, et al. Bartter's Syndrome: a disorder characterized by high urinary prostaglandin and dependence of hyperreninemia on prostaglandin synthesis. Amer J Med 1976; 61:43-51.  Back to cited text no. 11    
12.Stoff JS, Stemerman M, Steer M, Saizman E, Brown RS. A defect in platelet aggregation in BarIter's syndrome. Amer J Med 1980; 68:171-180.  Back to cited text no. 12    
13.James T, Holland NH, Preston D. Bartter syndrome, typical facies and normal plasma volume. Amer J Dis Child 1975; 129:1205-1207  Back to cited text no. 13    
14.Ross B, Cowett RM, Oh W. Renal functions of low birth weight infants during first 2 months of life. Pediatr Res 1977; 11:1162-1164.  Back to cited text no. 14    
15.Gill JR, Bartter PC. Evidence for a prostaglandin independent defect in chloride reabsorption in the loop of Henle as a proximal cause of Bartter's syndrome. Amer J Med 1978; 65:766-772.  Back to cited text no. 15    
16.Verberckmoes R, van Damme BB, Clement J. Bartter's syndrome with hyperplasia of renomedullary cells: successful treatment with indomethacin. Kidney Int 1976; 9:302-307.   Back to cited text no. 16    


    Tables

[Table - 1], [Table - 2], [Table - 3]

This article has been cited by
1 Bartteręs syndrome in two successive generations of a Saudi family
Malik, G.H., Al-Wakeel, J., Al-Mohaya, S., Mitwalli, A.H., Sulimani, R.A., Kechrid, M.S., El Gamal, H.H.
American Journal of Nephrology. 1997; 17(6): 495-498
[Pubmed]



 

Top
Print this article  Email this article
Previous article Next article
Online since 12th February '04
© 2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow