Results 1 to 10 of about 5,789 (160)

Unconfirmed hereditary hemochromatosis presenting as decompensated cirrhosis with severe hyperbilirubinemia [PDF]

Journal of Family Medicine and Primary Care
Hereditary hemochromatosis (HH) is the most common inherited disorder of iron metabolism, and its early diagnosis and management are crucial to preventing progression to cirrhosis. However, delayed diagnosis and lack of follow-up can lead to irreversible
Melissa F. Machado, Bao Huynh, Bradley Brodie, Myna He, Farah Ferreiro   +4 more
doaj   +3 more sources

Hereditary hyperbilirubinemias [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2014
Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, Crigler- Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated ...
Radlović Nedeljko
doaj   +3 more sources

Hereditary Spherocytosis: Review of Presentation at Birth [PDF]

Children
Background/Objectives: We wished to raise awareness of Hereditary Spherocytosis (HS) as a potential cause of early and significant hemolytic newborn jaundice.
Nadine-Stella Achenjang, Elizabeth Jadczak, Rita M. Ryan, Mary L. Nock   +3 more
doaj   +2 more sources

Genetic, clinical, and biochemical profiling of Gilbert syndrome in a Nepali cohort: High prevalence of the UGT1A1 c.-3279T>G polymorphism and correlation with hematological parameters. [PDF]

PLoS ONE
IntroductionGilbert Syndrome (GS) is a common hereditary disorder characterized by intermittent jaundice. The pathogenesis is unconjugated hyperbilirubinemia due to reduced hepatic UDP-glucuronosyltransferase 1A1 (UGT1A1) activity.
Pragya Gautam Ghimire, Prasanna Ghimire, Rajan Pande   +2 more
doaj   +2 more sources

Obstructive urinary tract infection–related septic shock in late pregnancy complicated by β-thalassemia intermedia and whipworm infection: a case report [PDF]

International Journal of Emergency Medicine
Background Sepsis is a leading cause of maternal mortality. Diagnosis in pregnancy is often delayed by non-specific symptoms and legitimate caution regarding diagnostic imaging.
Min Chen, Chuang Chen, Wei-ying Liu, Bo Xi, Dong-Yu Chen   +4 more
doaj   +2 more sources

Gilbert syndrome as a risk factor for the development of cholelithiasis in children [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2023
Introduction/Objective. Gilbert syndrome (GS) is the most common hereditary hyperbilirubinemia. As well as mild unconjugated hyperbilirubinemia, it is characterized by the excess of bilirubin monoglucuronide over diglucuronide in the bile and thus ...
Radlović Vladimir, Golubović Zoran, Leković Zoran, Dučić Siniša, Radlović Nedeljko, Jovanović Branislav, Bukva Bojan, Pavićević Polina, Nikolić Dejan, Janković Jovana   +9 more
doaj   +1 more source

Anti-E Minor Blood Group Incompatibility and Hereditary Spherocytosis Associated Severe Hyperbilirubinemia: Neonatal Case Report

Forbes Tıp Dergisi, 2022
Neonatal jaundice is one of the most common clinical findings in the neonatal period. In neonatal pathological jaundice, the causes of hyperbilirubinemia caused by erythrocyte destruction should be considered and evaluated in terms of hemolytic jaundice.
Sema TANRIVERDİ, Sinem ATİK
doaj   +1 more source

HEREDITARY UNCONJUGATED HYPERBILIRUBINEMIA

Hepatology and Gastroenterology, 2023
Congenital hereditary non-conjugate hyperbilirubinemias include Gilbert’s syndrome, Crigler-Najjar type 1 and Crigler-Najjar type 2 syndromes (or Arias’ disease). They are caused by a hereditary deficiency of the enzyme - bilirubinuridine-5’-diphosphate glucuronosyltransferase (UGT1A1), involved in the glucuronization of bilirubin.
N. N. Silivontchik, T. N. Yakubchyk, O. A. Zhigaltsova-Kuchinskaya   +2 more
openaire   +1 more source

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

Frontiers in Genetics, 2023
Pyruvate Kinase Deficiency (PKD) and Crigler-Najjar syndrome are rare autosomal recessive liver diseases. PKD is caused by homozygous or compound heterozygous mutations in the PKLR gene, leading to non-spherocytic hereditary hemolytic anemia.
Huan Wu, Long Wu, Quan Zhang, Bao-fang Zhang   +3 more
doaj   +1 more source

Lesions in Southdown Sheep with Hereditary Hyperbilirubinemia [PDF]

Veterinary Pathology, 1972
Seven mutant Southdown sheep, with congenital hyperbilirubinemia, 1 1/4–5 years of age, were necropsied. Gross lesions were yellow and green discolorations, testicular atrophy, radial renal fibrosis, pulmonary edema, hydrothorax, and ascites. Pigmentation was detected only in the teeth unless the sheep had been exsanguinated; light green bones ...
M D, McGavin, C E, Cornelius, R R, Gronwall   +2 more
openaire   +2 more sources