Síndrome de Gitelman, a propósito de un caso

Abstract

Gitelman syndrome, a case reportLas tubulopatías son un grupo heterogéneo de entidades definidas por anomalías de la función tubular renal. El síndrome de Gitelman, objeto de nuestro caso, está causado por mutaciones inactivantes del gen SLC12A3, que codifica el cotransportador Na-Cl sensible a tiazidas del túbulo contorneado distal, produciendo así una pérdida urinaria de Cl-Na. Suele iniciarse al final de la infancia o en la adolescencia, con avidez por las comidas saladas, cansancio excesivo, debilidad y calambres musculares. Una pequeña proporción de niños puede tener fallo de medro. Característicamente, no presentan hipertensión arterial ni disminución de la función glomerular. En algunos pacientes las manifestaciones clínicas son leves y pueden pasar desapercibidas.Tubulopathies are a heterogeneous group of conditions defined by abnormalities of renal tubular function. The Gitelman Syndrome, subject of our case, is caused by inactivating mutations of the SLC12A3 gene, which codifies the Na-Cl cotransporter thiazide, sensitive to the distal convoluted tubule, thus producing a urinary loss of Na Cl. It usually begins in late childhood or adolescence, with eagerness for salty foods, excessive tiredness, weakness and muscle cramps. A small proportion of children may have failure to thrive. Characteristically they do not have hypertension and decreased glomerular function. In some patients the clinical manifestations are mild and can go unnoticed.

Kaposi’s varicelliform eruption: a potentially life-threatening complication of atopic dermatitis

“…Kaposi’s varicelliform eruption (KVE) is an acute dermatosis that affects patients with chronic dermatoses, due to the cutaneous dissemination of the herpes simplex virus (HSV) [ 1 ] . It occurs mainly in patients with atopic dermatitis (< 3%) [ 2 ] .…”