A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome/Metabolik Alkaloz Olmayan Pediyatrik Olguda Nadir Bir Tani; Bartter Sendromu

Inherited salt-wasting tubulopathies include antenatal Bartter syndrome (BS), classical (tip 3) BS, and Gitelman syndrome, BS is an autosomal recessive inherited syndrome associated with impaired sodium and chloride reabsorption in the renal tubule, In classical BS cases with mutations in CLCNKB gen...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Bagcilar Medical Bulletin 2024-03, Vol.9 (1), p.71
Hauptverfasser: Tosun, Demet, Tulpar, Sebahat, Cicek, Rumeysa Yasemin
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Inherited salt-wasting tubulopathies include antenatal Bartter syndrome (BS), classical (tip 3) BS, and Gitelman syndrome, BS is an autosomal recessive inherited syndrome associated with impaired sodium and chloride reabsorption in the renal tubule, In classical BS cases with mutations in CLCNKB gene, dehydration episodes are observed within the first year of life, Polyuria, polydipsia, and dehydration are common symptoms in BS, Hypokalemia, hypochloremia, and metabolic alkalosis are observed in almost all of the cases, In this article, we presented a case of type 3 BS without metabolic alkalosis, In the presence of failure to thrive, polyuria, and low sodium, potassium, and chloride, even in the absence of metabolic alkalosis, type 3 BS should be considered in the differential diagnosis, Keywords: Bartter syndrome, hypokalemia, metabolic alkalosis Tuz kaybettiren herediter tubulopatiler arasinda antenatal Bartter sendromu (BS), klasik (tip 3) BS ve Gitelman sendromu yer alir. BS, renal tubulde sodyum ve klorurun geri emiliminde bozukluk ile iliskili otozomal resesif kalitsal bir sendromdur. CLCNKB geninde mutasyon bulunan klasik BS olgularinda yasamin ilk yilinda dehidrasyon ataklari gorulur. BS'de poliuri, polidipsi ve dehidrasyon sik gorulen semptomlardir. Olgularin hemen hepsinde hipokalemi, hipokloremi ve metabolik alkaloz gorulur. Bu yazida metabolik alkalozu olmayan tip 3 BS olgusunu sunduk. Gelisme geriligi, poliuri ve dusuk sodyum, potasyum ve klorur varliginda, metabolik alkaloz olmasa bile tip 3 BS ayirici tanida dusunulmelidir. Anahtar kelimeler: Bartter sendromu, hipokalemi, metabolik alkaloz
ISSN:2547-9431
2547-9431
DOI:10.4274/BMB.galenos.2023.2023-10-093