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Genetic Analysis in Bartter Syndrome from India

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Abstract

Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population. The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia. Mutational analysis revealed compound heterozygous mutations in KCNJ1(ROMK) gene [p(Leu220Phe), p(Thr191Pro)]. Second case had a phenotypic presentation of classical Bartter syndrome however, genetic analysis revealed only heterozygous novel mutation in SLC12A gene p(Ala232Thr). Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling.

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Contributions

PKS and BS: Collected the data, prepared, critically revised and finally approved the manuscript; RS and KA: Collected the data, prepared the manuscript; PK and VKA: Critically revised and finally approved the manuscript; HC: Did the genetic analysis and provided the interpretation of the same. PK will act as guarantor for the paper.

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Authors and Affiliations

  1. Department of Pediatric Intensive Care Unit, B L Kapur Super Speciality Hospital, New Delhi, India

    Pradeep Kumar Sharma, Bhaskar Saikia, Rachna Sharma & Praveen Khilnani

  2. Department of Neonatal Intensive Care Unit, B L Kapur Super Speciality Hospital, New Delhi, India

    Kumar Ankur

  3. Department of Pediatric Nephrology, B L Kapur Super Speciality Hospital, New Delhi, India

    Vinay Kumar Aggarwal

  4. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, South Korea

    Hae Cheong

  5. Flat No 48, Pocket 7, Sector 21, Rohini, New Delhi, 110086, India

    Pradeep Kumar Sharma

Authors
  1. Pradeep Kumar Sharma
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  2. Bhaskar Saikia
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  3. Rachna Sharma
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  4. Kumar Ankur
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  5. Praveen Khilnani
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  6. Vinay Kumar Aggarwal
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  7. Hae Cheong
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Correspondence to Pradeep Kumar Sharma.

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Sharma, P.K., Saikia, B., Sharma, R. et al. Genetic Analysis in Bartter Syndrome from India. Indian J Pediatr 81, 1095–1098 (2014). https://doi.org/10.1007/s12098-014-1379-6

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  • DOI: https://doi.org/10.1007/s12098-014-1379-6

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