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.

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Abdominal pain is not always what it seems La obstrucción de la unión pieloureteral es la causa más frecuente de hidronefrosis en la infancia. El uso de las ecografías prenatales ha provocado un cambio en la presentación clínica de la hidronefrosis, permitiendo el diagnóstico antes de que existan síntomas. Pero existen casos de diagnóstico tardío, en la edad preescolar o escolar. Ureteropelvic junction obstruction is the most common cause of pediatric hydronephrosis. The typical presentation of hydronephrosis has changed since the widespread use of antenatal ultrasonography and nowadays diagnosis may be set before symptoms begin. But there are cases of late diagnosis in preschool or school age.

The causes of neonatal anemia can be: blood loss, destruction of red blood cells and lack of production. 2 a. Causes of blood loss include antenatal (fetal-fetal transfusion, fetal-maternal transfusion); 4 intrapartum (obstetric accidents, placental vascular malformations or umbilical cord vessels); postpartum (internal bleeding, excessive extractions). b. Among those caused by the destruction of red blood cells we highlight: hemolysis due to incompatibility of blood group and Rh, spherocytosis or other hemoglobinopathies, infections or toxins.

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