ABSTRACT
Pseudohypoaldosteronism (PHA) comprises a diverse group of rare diseases characterized by sodium and potassium imbalances incorrectly attributed to a defect in aldosterone production. Two different forms of PHA have been described, type I (PHAI) and type II (PHAII). PHAI has been subclassified into renal and systemic. Given the rarity and heterogeneity of this group of disorders we report three patients who carry PHA and a brief revision of current literature focused on the comparative analysis of PHAI and PHAII. Cases 1 and 2 presented with hyponatremia, hyperkalemia, metabolic acidosis and elevated plasma aldosterone and plasma renin activity in the neonatal period. Sequence analysis of the NRC2 gene demonstrated a novel heterozygous c.403C>T mutation in case 1 and a complete deletion in case 2, confirming the diagnosis of renal PHAI. Case 3 was a 4-year-old with hypertension, hyperkalemia, metabolic acidosis, normal plasma aldosterone and decreased plasma renin activity. Sequence analysis of the CUL3 gene demonstrated a previously unreported heterozygous c.1377+2T>3 mutation, confirming the diagnosis of PHAII-E. We highlight the importance of the determination of plasma aldosterone and plasma renin activity in the context of persistent sodium and potassium imbalances in children.
Subject(s)
Cullin Proteins/genetics , Mutation , Pseudohypoaldosteronism/physiopathology , Child, Preschool , Female , Humans , Infant, Newborn , Male , Pseudohypoaldosteronism/classification , Pseudohypoaldosteronism/geneticsABSTRACT
OBJETIVO: Aportar dos nuevos casos de Púrpura de Schönlein-Henoch (PSH) que en su curso evolutivo presentaron afectación escrotal aguda. MÉTODO: Se presentan dos casos de escroto agudo en el curso de la vasculitis de Schönlein-Henoch y se comenta, brevemente, la literatura al respecto. RESULTADO/CONCLUSIONES: La PSH es una vasculitis sistémica con afección del área gonadal en torno al 15 por ciento, planteando el diagnóstico diferencial con la torsión testicular. La clínica, asociada a la exploración física y ecografía escrotal han de ser suficientes para un diagnóstico correcto, evitando la exploración quirúrgica. Sin embargo, ante la duda diagnóstica podemos recurrir a las técnicas isetópicas y/o eco-doppler, pero si no disponemos de ellas, no debemos demorar la escrototomía exploradora. Resaltar la excelente respuesta al tratamiento esteroideo (AU)
