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Browsing by Author "Cunha, Joaquim"

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  • Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review
    Publication . Meireles, Daniel; Figueiredo, Rafael; Rocha, Liliana; Cunha, Joaquim; Matos, Paula
    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.
    2020-12Journal article Open access Show more
  • Insulin-induced edema in a pediatric patient – Clinical case
    Publication . Ferraz de Liz, Catarina; Cunha, Joaquim; Lira, Susana
    Introduction: Insulin edema is a rare condition associated with improved glycemic control shortly after diabetes diagnosis or following a period of insulin omission. Clinical findings range from mild edema to severe heart failure and pleural effusion. Diagnosis is clinical and other edema causes should be excluded. Since it is a self-limited condition, there is no need to modify insulin regimen. In more severe cases, diuretic therapy may be required. Clinical case: A 14-year-old female was brought to the Emergency Department due to weight gain and leg swelling with three days of evolution. She had been diagnosed with type 1 diabetes at the age of nine. The girl had poor metabolic control which led to multiple hospitalizations, the last one occurring the week before with a glycated hemoglobin higher than 15%. In physical examination, lower limb edema and a 7-kg weight gain were noted. No jugular vein distension, hepatomegaly, or other forms of edema were found. The girl was hemodynamically stable, with diuresis within the normal range. Analytical study consisting of hemogram, ionogram (sodium and potassium), and renal and hepatic function was normal. Urine analysis revealed glycosuria and chest x-ray showed no abnormalities. The diagnosis of insulin-induced edema was established and water and saline restriction recommended, with total symptom resolution three weeks later. Conclusion: Despite rare, clinicians should be aware of this condition, as most cases do not require modifying the insulin regimen.
    2020-03Journal article Open access Show more