Villarreal-Gómez LE, Dorado-Alcaraz CJ

Language: Spanish
References: 12
Page: 51-55
PDF size: 234.71 Kb.

ABSTRACT

Polycystic kidney disease is a condition that affects both kidneys symmetrically, which results from a mutation on chromosome 16, a disease with a low incidence of 1: 20,000 new borns and corresponds to 4.25% of all abdominal masses on newborns. β-thalassemia: Approximately 68,000 children, are born per year with thalassemic syndromes, these are reported in more than 80 to 90 million people around the world, consisting of mutations that cause defective synthesis of hemoglobin beta chains; the severity is related to the degree Alpha chains excess, which precipitate the precursors of the erythrocyte, leading to severe anemia. Clinical case: A premature female of 30 weeks of gestation borned by cesarean section due to suspected diagnosis of chorioamnionitis, anhydramnios and uterine growth restriction is transferred with hours of life to the Hospital del Niño “Dr. Federico Gómez Santos” from the Hospital General de Saltillo, where a renal ultrasound was performed, reporting enlarged kidneys with the presence of multiple quistic images, corresponding to polycystic kidney disease; hemoglobin electrophoresis was performed with an increase in HbF and absence of HbA2, suspected β-thalassemia awaiting confirmation by HPCL study.

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