Association of hereditary elliptocytosis and Gilbert’s syndrome as the cause of biliary calculosis: Case report

Author:

Radlovic Nedeljko1,Ristic Dragana2,Brdar Radivoj1,Janic Nenad1,Lekovic Zoran2,Janic Dragana1,Smoljanic Zeljko2,Dokmanovic Lidija1ORCID,Jovanovic Miodrag3

Affiliation:

1. Univerzitetska dečja klinika, Beograd + Medicinski fakultet, Beograd

2. Univerzitetska dečja klinika, Beograd

3. Klinika za abdominalnu i endokrinu hirurgiju, Vojnomedicinska akademija, Beograd

Abstract

Introduction. Biliary calculosis is rare in children. It occurs associated with different haemolytic and non-haemolytic disorders, which are sometimes also combined. Case Outline. A 15-year-old male was hospitalized due to biliary calculosis and non-conjugated hyper-bilirubinemia. A mild non-conjugated hyperbilirubinemia, without anaemia and other symptoms of liver dysfunction, was registered at age 8 years, and 7 years later cholelithiasis with transitory choledocholithiasis. The finding of ellyptocytes in blood smear, which was also verified in mother, normal haemoglobin count and the absence of diseases followed by secondary dysmorphic erythrocytes of this type, indicated a clinically milder (compensated) hereditary ellyptocytosis, while more than a double increase of non-conjugated serum bilirubin fracture after a three-day hypocaloric diet (400 kcal per day) showed the concurrent presence of Gilbert?s syndrome. In the laparascopically removed gallbladder a larger number of small pigmented calculi were disclosed. Conclusion. Gilbert?s syndrome is an essential precipitating factor of biliary calculosis in patients with chronic haemolytic condition. Thus, in all cases of biliary calculosis and non-conjugated hyperbilirubinemia with absent clinical and laboratory parameters of liver disorders and anaemia, except in compensated haemolytic disease and Gilbert?s syndrome as isolated disorders, a possibility of their association should be taken into consideration.

Publisher

National Library of Serbia

Subject

General Medicine

Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Diagnosis of gilbert’s syndrome via pyrosequencing in clinical practice;The Russian Archives of Internal Medicine;2019-11-30

2. Analysis of the low functional allele 7(TA) of the UGT1A1 gene in healthy population in the Western region of Ukraine;The Journal of V. N. Karazin Kharkiv National University, Series "Biology";2019

3. UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia;Balkan Journal of Medical Genetics;2018-06-01

4. Scoliosis in a Patient With Gilbert Syndrome;Medicine;2015-11

5. Hereditary hyperbilirubinemias;Srpski arhiv za celokupno lekarstvo;2014

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