medigraphic.com
ISSN 0035-0052 (Print)

2025, Number 2

<< Back Next >>

Rev Mex Pediatr 2025; 92 (2)

Bartter syndrome in the differential diagnosis of patients with polyuria and polydipsia

Sandoval-Flores DA, Razura-Morán J

Language: Spanish
References: 20
Page: 58-62
PDF size: 306.62 Kb.


ABSTRACT

Introduction: polyuria and polydipsia in children can be due to multiple etiologies, one of which is Bartter syndrome type III, a rare inherited tubulopathy caused by mutations in the CLCNKB gene. Although there are previous reports of this condition, its presentation during the first months of life is unusual. Case presentation: a two-year-seven-month-old male patient presented with symptoms at six months of age, with episodes of recurrent dehydration, vomiting, fever without an infectious source, and thirst for water. He was referred to the endocrinology department for suspected diabetes insipidus, which was ruled out by elevated urine osmolarity and the absence of hypernatremia. Because the patient had hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemic hyperaldosteronism, Bartter syndrome was suspected, and treatment was initiated with potassium, sodium, and indomethacin. The diagnosis was confirmed with the identification of a homozygous mutation in the CLCNKB gene. Conclusions: we hope that this case will contribute to the diagnostic-therapeutic process of all patients with polyuria and polydipsia, including genetic analysis.


REFERENCES

  1. Lokulo-Sodipe O, Belkhatir K, Makaya T. Assessment and management of the child with excessive thirst. Paediatr Child Health. 2021; 31(8): 330-334.

  2. Lumbreras Fernández J, Amil Pérez B. Poliuria y polidipsia. Protoc Diagn Ter Pediatr [Internet]. 2022; 1: 93-102. Disponible en: https://www.aeped.es/sites/default/files/documentos/06_poliuria_polidipsia.pdf

  3. Mahon M, Amaechi G, Slattery F, Sheridan AL, Roche EF. Fifteen-minute consultation: polydipsia, polyuria or both. Arch Dis Child Educ Pract Ed. 2019; 104(3): 141-145.

  4. García Espinosa L, Zarauza Santoveña A, Bravo Feito J, Melgosa Hijosa M, Fernández Camblor C, Alonso Melgar A et al. 40 años de experiencia en síndrome de Bartter. Nefrologia. 2024; 44(5): 615-768. doi: 10.1016/j.nefro.2023.11.004.

  5. Kermond R, Mallett A, McCarthy H. A clinical approach to tubulopathies in children and young adults. Pediatr Nephrol. 2023; 38: 651-662. doi: 10.1007/s00467-022-05606-1.

  6. Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G et al. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders. Kidney Int. 2021; 99 (2): 324-335. doi: 10.1016/j.kint.2020.10.035.

  7. Liu J, Zhang Y, Wu X, Li Y. Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report. Front Pediatr. 2023; 11: 1169486. doi: 10.3389/fped.2023.1169486.

  8. American College of Clinical Pharmacy. Pediatric lab values table [Internet]. Lenexa (KS): ACCP; 2023 [citado 23 de enero de 2025]. Disponible en: https://www.accp.com/docs/sap/Lab_values_Table_PedSAP.pdf

  9. Anderson CC, Kapoor S, Mark TE. The Harriet lane handbook. 23rd ed. Philadelphia: Elsevier; 2023. pp. 268, 738-742, 745.

  10. Endocrine Sciences. Expected Values & S.I. Unit Conversion Tables. Esoterix Laboratory; 2023. pp. 5, 18, 44, 59.

  11. Phadke K, Goodyer P, Bitzan M. Manual of pediatric nephrology. Berlin: Springer-Verlag; 2014. pp. 11, 66.

  12. Ortega López P, González Rodríguez JD, García Nieto V. Pruebas de función renal: glomerular y tubular. Nefrología al Día [Internet]. 2023. Disponible en: https://www.nefrologiaaldia.org/es-articulo-pruebas-de-funcion-renal-634

  13. Mejorado Molano FJ, Soriano Guillén L. Diabetes insípida. Enfoque diagnóstico y terapéutico. Rev Esp Endocrinol Pediatr. 2021; 12(Suppl 2): 56-66. doi: 10.3266/RevEspEndocrinolPediatr.pre2021.Apr.644.

  14. García García E. Diabetes insípida. Protoc Diagn Ter Pediatr [Internet]. 2019; 1: 49-62. Disponible en: https://www.aeped.es/sites/default/files/documentos/03_diabetes.pdf

  15. Otsubo Y, Kano Y, Suzumura H, Yoshihara S. Type 3 antenatal Bartter syndrome presenting with mild polyuria. BMJ Case Rep. 2021; 14: e242086. doi: 10.1136/bcr-2021-242086.

  16. Madrigal G, Saborio P, Mora F, Rincon G, Guay-Woodford LM. Bartter syndrome in Costa Rica: a description of 20 cases. Pediatr Nephrol. 1997; 11(3): 296-301. doi: 10.1007/s004670050280.

  17. Serna Higuita LM, Betancur Londoño LM, Medina Vásquez CM, Pineda Trujillo N, Vanegas Ruiz JJ. Síndromes de Bartter y Gitelman: revisión de los aspectos genéticos, fisiopatológicos y clínicos. Iatreia [Internet]. 2009; 22(1): 67-76. Disponible en: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0121-07932009000100007

  18. Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C et al. Clinical and genetic spectrum of Bartter syndrome type 3. J Am Soc Nephrol. 2017; 28(8): 2540-2552. doi: 10.1681/ASN.2016101057.

  19. Peces R, Mena R, Peces C, Barruz P, Trujillo H, Carreño A et al. Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain. Clin Kidney J. 2021; 14(8): 1990-1993. doi: 10.1093/ckj/sfab083.

  20. López Pérez JJ, Jaimes Martínez LF, Galvis Alvarado EF. Síndrome de Bartter. Reporte de un caso y revisión de la literatura. Rev Fac Med [Internet]. 2011; 19(2): 185-206. Disponible en: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0121-52562011000200006




2020     |     www.medigraphic.com