Clinical case of combined genetic pathology in a child with jaundice syndrome

Abstract

Diagnosis of a combined genetic pathology that occurs with jaundice syndrome is a difficult task, because of common clinical manifestations for several diseases having different genesis and requiring specific diagnosis and treatment tactics. Icteric staining of the skin due to hyperbilirubinemia at any age requires immediate examination to establish its genesis and differential diagnosis between infectious and non-infectious diseases. The spectrum of diseases accompanied by jaundice syndrome includes more than 50 different diseases. The main mechanisms of suprahepatic jaundice are: firstly, a violation of the capture and glucuronidation of bilirubin in the liver, and secondly, an increased destruction of red blood cells due to hemolysis or during the disposal of blood during internal bleeding. The first mechanism is realized in Gilbert’s syndrome, while the second mechanism of suprahepatic jaundice is often due to hemolytic anemia.In presented clinical case, the implementation of two pathogenetic forms of jaundice in one patient is shown — suprahepatic, caused by type 2 hereditary stomatocytosis and Gilbert’s syndrome, as well as obstructive jaundice, caused by cholelithiasis. The special attention should be paid to precise patient examination, if disease manifestations are not consistent with classical clinical picture. The use of a new generation sequencing method, along with traditional diagnostics methods, made it possible to establish an accurate diagnosis and determine the tactics of patient management.