SciELO - Scientific Electronic Library Online

 
vol.29 issue4CONGENITAL PULMONARY AIRWAY MALFORMATION AND BRONCHOPULMONARY SEQUESTRATION IN INFANTS - A RARE DIAGNOSISPancreatitis and diabetic ketoacidosis in an adolescent treated with sertraline author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

  • Have no similar articlesSimilars in SciELO

Share


Nascer e Crescer

Print version ISSN 0872-0754On-line version ISSN 2183-9417

Abstract

MEIRELES, Daniel et al. Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review. Nascer e Crescer [online]. 2020, vol.29, n.4, pp.204-208.  Epub Dec 31, 2020. ISSN 0872-0754.  https://doi.org/10.25753/birthgrowthmj.v29.i4.18611.

Introduction:

Gitelman syndrome (GS) is a renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Clinical manifestations are nonspecific. Herein are reported three cases of GS with different age of onset, clinical manifestations, and management.

Case Reports:

Case 1 was a sixteen-year-old female, while Cases 2 and 3 presented at an atypical age (seven and eight years). Clinical manifestations mainly consisted of abdominal pain with vomits, together with past history of muscular weakness in Case 1. Diagnosis was based on usual electrolyte abnormalities, such as metabolic alkalosis with hypokalemia. Genetic diagnosis was confirmed in Case 3. Patients were treated with oral potassium, magnesium, and spironolactone, with symptom and electrolytic profile improvement.

Discussion/Conclusions:

GS is a rare condition that should be considered in cases of metabolic alkalosis and hypokalemia and all pediatricians should be aware of. Diagnosis is established based on biochemical profile and treatment response.

Keywords : Gitelman syndrome; hypokalemia; metabolic alkalosis; tubular hypomagnesemia-hypokalemia with hypocalciuria; tubulopathy.

        · abstract in Portuguese     · text in English     · English ( pdf )