Soliter Böbrekli Çocuk Olguda Bartter Sendromu

Abstract

Bartter Sendromu (BS), poliüri, renal tuz kaybı, yüksek renin ve aldosteron düzeylerinin eşlik ettiği hipokalemik metabolik alkaloz ile karaterize kalıtsal bir hastalıktır. BS hastalarında semptomlar sıklıkla yaşamın ilk iki yılı içerisinde görülmekle birlikte okul çağından sonra da tanı konabilmektedir. Konjenital böbrek ve üriner sistem anomalileri ile BS birlikteliği çok nadirdir. Burada sağ renal ageneziye bağlı soliter böbreği olan ve daha sonra klinik ve laboratuvar bulguları ışığında BS tanısı alan 4 yaşında bir kız hasta sunulmuştur. Hasta, yaklaşık iki yıldır devam eden çok idrar yapma şikayetiyle çocuk nefroloji polikliniğine başvurmuştur. Laboratuvar incelemelerinde hiponatremi, hipokloremi, hipokalemi, metabolik alkaloz, renin ve aldosteron yüksekliği ile birlikte idrarda sodium, potasyum ve klor atılımında artış kaydedilmiştir. Ter testi normal olan hastadan klasik BS ön tanısıyla CLCNKB gen mutasyonu varlığı araştırılmış, mutasyon saptanmamıştır. Hastada diğer BS tiplerinin hafif bir formunun olabileceği düşünülmüştür. Renal agenezi ile BS birlikteliği literatürde daha önce bildirilmemiş olup diğer üriner anomaliler ve BS birlikteliği de çok nadirdir. Anahtar Kelimeler: Bartter sendromu, Renal agenezi, Tek böbrek

Keywords

• Bartter Sendromu
• Renal Agenezi
• Tek Böbrek

Bartter Syndrome in a Child With Solitary Functioning Kidney

Abstract

Bartter Syndrome (BS) is a hereditary condition characterized by polyuria, renal salt wasting, and hypokalemic metabolic alkalosis with high serum renin and aldosterone levels. Patients with BS usually have symptoms in the first two years of life, but they might also be diagnosed at school age or later. Associations between congenital renal and urinary system anomalies and BS are extremely rare. Here we present a case of a 4-year-old girl having a solitary functioning kidney (SFK) due to right renal agenesis, who eventually diagnosed as BS in the light of clinical and laboratory findings. The patient applied to the pediatric nephrology department with the complaint of polyuria. Laboratory evaluation revealed hyponatremia, hypochloremia, hypokalemia with metabolic alkalosis, and high renin and aldosterone levels. Urine sodium, chloride, potassium excretions were increased. Sweat test was normal. CLCNKB mutation with the diagnosis of classic BS was negative. We assume that our patient might have another type of BS with a milder mutation. Urinary anomalies accompanying BS are very rarely reported and up to our knowledge the togetherness of renal agenesis and BS has not been defined in the literature yet.

Keywords

• Bartter Syndrome
• renal agenesis
• solitary functioning kidney

References

1. 1. Bartter FC, Pronove P, Gill JR Jr, MacCardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med. 1962;33:811-828. doi:10.1016/0002-9343(62)90214-0
2. 2. Fremont OT, Chan JC. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr. 2012;8:25-30. doi:10.1007/s12519-012-0333-9
3. 3. Hebert SC. Bartter syndrome. Curr Opin Nephrol Hypertens. 2003;12:527-532. doi:10.1097/00041552-200309000-00008
4. 4. Amirlak I, Dawson KP. Bartter syndrome: an overview. QJM. 2000;93:207-215. doi:10.1093/qjmed/93.4.207
5. 5. Tomimatsu T, Fukuda H, Kanzaki T, Hirano S, Wada K, Murata Y. Neonatal Bartter syndrome with unilateral multicystic dysplastic kidney disease. Pediatr Nephrol. 2003;18:391-393. doi: 10.1007/s00467-002-1043-7.
6. 6. Westland R, Hack WW, van der Horst HJ, et al. Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation. Clin Nephrol. 2012;78:492-496. doi:10.5414/cn107206
7. 7. Brochard K, Boyer O, Blanchard A, et al. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant. 2009;24:1455-1464. doi:10.1093/ndt/gfn689
8. 8. Konrad M, Vollmer M, Lemmink HH, et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol. 2000;11:1449-1459. doi:10.1681/ASN.V1181449

9. 9. Aksoy OY, Cayci FS, Ceylaner S, Tokgoz SA, Kaplan G, Bayrakci US. Hypokalemia and hearing loss in a 3-year-old boy: Answers. Pediatr Nephrol. 2020;35:617-618. doi: 10.1007/s00467-019-04383-8.
10. 10. Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet. 1997;17:171-178. doi:10.1038/ng1097-171
11. 11. Westland R, Schreuder MF, Bökenkamp A, Spreeuwenberg MD, van Wijk JA. Renal injury in children with a solitary functioning kidney--the KIMONO study. Nephrol Dial Transplant. 2011;26:1533-1541. doi:10.1093/ndt/gfq844
12. 12. Okuda S, Motomura K, Sanai T, Tsuruda H, Oh Y, Onoyama K, Fujishima M. Influence of age on deterioration of the remnant kidney in uninephrectomized rats. Clin Sci (Lond). 1987;72:571-576. doi: 10.1042/cs0720571.
13. 13. Schreuder MF, Langemeijer ME, Bökenkamp A, Delemarre-Van de Waal HA, Van Wijk JA. Hypertension and microalbuminuria in children with congenital solitary kidneys. J Paediatr Child Health. 2008;44:363-368. doi:10.1111/j.1440-1754.2008.01315.x