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2021, Number 3

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Acta Pediatr Mex 2021; 42 (3)

Neonatal Bartter Syndrome in a premature patient. Literature review

Gálvez-Cuitiva EA, Rojas-Muriel J

Language: Spanish
References: 19
Page: 121-127
PDF size: 185.74 Kb.


ABSTRACT

Background: Bartter syndrome is a tubulopathy affecting water-electrolyte transport; its prevalence is one case per million population. Five autosomal recessive subtypes and one autosomal dominant subtype have been described. Of these, four subtypes are of antenatal presentation, with an outstanding characteristic of polyuria that generates polyhydramnios, prematurity and, in the neonatal period, hydroelectrolytic alterations that lead to renal lesions and neurological alterations.
Clinical case: Newborn, product of the second pregnancy, 22-year-old mother who started with a significant increase in abdominal perimeter around 12 weeks of pregnancy. Expectant management was chosen until the 23rd week, when the diagnosis of severe polyhydramnios was established, with no report of fetal structural alteration. Bartter's syndrome was suspected and confirmed with the corresponding studies. She was treated with ibuprofen and the response was satisfactory.
Conclusion: The lack of identification of this disease, together with the inadequate hydroelectrolytic treatment of these patients leads to dehydration and severe hydroelectrolytic alterations that can trigger renal failure, some subtypes of sensorineural deafness, neurodevelopmental alterations and death.


REFERENCES

  1. Legrand A, Treard C, Roncelin I, Dreux S, et al. Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. CJASN 2018, 13 (2): 242-50. https://doi.org/10.2215/ CJN.05670517.

  2. Kleta R. Salt-Losing Tubulopathies in Children : What ’ s New , What’s Controversial ? JASN 2018; 29 (3); 727-739. https://doi.org/10.1681/ASN.2017060600.

  3. López Pérez JJ, Jaimes Martínez LF, Galvis Alvarado EF. Síndrome de Bartter. Reporte de un caso y revisión de la literatura. Revista Med 2011; 19 (2): 185-206. https://doi. org/10.18359/rmed.1280.

  4. Shaer AJ. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci 2001; 322 (6): 316-32. doi.10.1097/00000441- 200112000-00004. PMID: 11780689.

  5. Waldegger S. Bartter, Gitelman, and Related Syndromes. Comprehensive Pediatr Nephrol. 2008. 451-59. 10.1016/ B978-0-323-04883-5.50035-0.

  6. Bhat.Y, Ramesh Vinayaka, G Sreelakshmi, K. Antenatal Bartter Syndrome: A Review. Int J Pediatr 2012. https:// doi.org/10.1155/2012/857136.

  7. Flores F, Ojeda F, Calhoun DA. Bartter syndrome: presentation in an extremely premature neonate. J Perinatol 2013; 33: 661-62. https://doi.org/10.1038/jp.2013.13.

  8. Fraga Rodríguez GM, Huertes Díaz B. Evaluación básica de la función renal en Pediatría. Protoc Diagn Terap Pediatr 2014; 1: 21-35.

  9. Kastl JT. Renal function in the fetus and neonate. The creatinine enigma. Semin Fetal Neonatal Med 2017; 22 (2): 83-89. doi: 10.1016/j.siny.2016.12.002. Epub 2017 Jan 18. PMID: 28109705.

  10. Seyberth HW, Weber S, Kömhoff M. Bartter's and Gitelman's syndrome. Curr Opin Pediatr 2017; 29 (2): 179-86. doi: 10.1097/MOP.0000000000000447. PMID: 27906863.

  11. Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40 (5): 592-99. doi: 10.1038/ng.118. Epub 2008 Apr 6. PMID: 18391953; PMCID: PMC3766631.

  12. Azzi A, Chehade H, Deschênes G. Neonates with Bartter syndrome have enormous fluid and sodium requirements. Acta Paediatrica 1992; 104 (7): e294-9. doi: 10.1111/ apa.12981.

  13. Amirlak IKP. Dawson, Bartter syndrome: an overview. QJM Int J Med 2000; 93 (4): 207-15. https://doi.org/10.1093/ qjmed/93.4.207.

  14. Roy A, Chakraborty D, Dogra S, Sengupta S. Neonatal Bartter Syndrome. J Nepal Paediatr Soc 2016; 36 (2): 204-7. https://doi.org/10.3126/jnps.v36i2.14818.

  15. Laghmani K, Beck BB, Yang S-S, Seaayfan E, Wenzel A, Reusch B, et al. Polyhydramnios, transient antenatal Bartter's Syndrome, and MAGED2 mutations. N Engl J Med. 2016; 374 (19): 1853-63. doi.10.1056/NEJMoa1507629. Epub 2016 Apr 27. PMID: 27120771.

  16. Garnier A, Dreux S, Vargas-Poussou R. Oury JF, Benachi A, Deschênes G, et al. Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis. Pediatr Res 2010; 67: 300-3. https://doi.org/10.1203/ PDR.0b013e3181ca038d.

  17. Hegde D, Mondkar J, Abdagire N. Neonatal bartter syndrome in an extremely low birth weight baby. Saudi J Kidney Dis Transplant 2017; 28 (5): 1162-64. PMID 28937079.

  18. Yang X, Zhang G, Wang M, Yang H, Li Q. Bartter Syndrome Type 3: Phenotype-genotype correlation and favorable response to ibuprofen. Front Pediatr 2018; 6: 153. doi: 10.3389/fped.2018.00153. PMID: 29900164; PMCID: PMC5989644.

  19. Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol 2011; 26 (10): 1789-802. doi: 10.1007/s00467-011-1871-4. Epub 2011 Apr 19. PMID: 21503667; PMCID: PMC3163795.




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