Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity

Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity

Abstract Background Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mutation (P364L, c.1091C > T) in homozygous newborns. We describe the c...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Laura Cozzi, Federica Nuti, Irene Degrassi, Daniela Civeriati, Giulia Paolella, Gabriella Nebbia
Định dạng:	Bài viết
Ngôn ngữ:	English
Được phát hành:	BMC 2022-04-01
Loạt:	Italian Journal of Pediatrics
Những chủ đề:	p.Pro364Leu UGT1A1 Neonatal severe unconjugated hyperbilirubinemia Gilbert syndrome Crigler-Najjar syndrome Case report
Truy cập trực tuyến:	https://doi.org/10.1186/s13052-022-01251-4

Những quyển sách tương tự

CRIGLER- NAJJAR SYNDROME – CASE REPORT
Bằng: Anja Šelih, et al.
Được phát hành: (2022-05-01)

Liver Transplantation in a Patient with Crigler-Najjar Syndrome Type 1: A Case Report of Two Cases
Bằng: Ahmed Uslu, et al.
Được phát hành: (2023-02-01)

Coexistence of mutations of Gilbert’s syndrome and Crigler-Najjar syndrome in an infant with unconjugated hyperbilirubinemia—a case report
Bằng: Ramya Srinivasa Rangan, et al.
Được phát hành: (2023-10-01)

Death Following Liver Transplantation in a Child with Crigler-Najjar Syndrome Type I: A Case Report
Bằng: Ida Soghi, et al.
Được phát hành: (2017-10-01)

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
Bằng: Linda Gailite, et al.
Được phát hành: (2020-03-01)

Successful Pregnancy Outcome In Maternal Crigler Najjar Syndrome Type II
Bằng: Shakuntala PN, et al.
Được phát hành: (2012-10-01)

A rare case of Crigler–Najjar syndrome type 2: A case report and literature review
Bằng: Divas Rijal, et al.
Được phát hành: (2023-11-01)

Cerebellar Symptoms in Crigler-Najjar Type I Disease
Bằng: J Gordon Millichap
Được phát hành: (1992-07-01)

Type II Crigler-Najjar syndrome: a case report and literature review
Bằng: Tao He, et al.
Được phát hành: (2024-05-01)

Delayed Diagnosis of Crigler-Najjar Disease: A Case Report of a 17-Year-Old Man with Progressive Jaundice
Bằng: Pedram Beigvand, et al.
Được phát hành: (2024-12-01)

A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I
Bằng: Sailaja Valmiki, et al.
Được phát hành: (2020-03-01)

Inherited Unconjugated Hyperbilirubinemias and Radical Cancer surgery: Perioperative Concerns for Bilateral Modified Radical Mastectomy
Bằng: Amit Kumar, et al.
Được phát hành: (2022-07-01)

Crigler-Najjar Syndrome - current state of knowledge, overview of etiology, symptoms, diagnosis and treatment methods
Bằng: Jakub Wawrzkowicz, et al.
Được phát hành: (2024-07-01)

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
Bằng: Huan Wu, et al.
Được phát hành: (2023-08-01)

Perioperative Management of Patient with Esophageal Carcinoma and Crigler-Najjar Syndrome Type 2: A Case Report
Bằng: Dehua Ma, et al.
Được phát hành: (2022-04-01)

Case report: Crigler-Najjar syndrome type 1 in Croatia—more than a one in a million: a case series
Bằng: Matea Kovačić Perica, et al.
Được phát hành: (2023-10-01)

A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report
Bằng: Xiaoxia Shi, et al.
Được phát hành: (2019-05-01)

Free Bilirubin Induces Neuro-Inflammation in an Induced Pluripotent Stem Cell-Derived Cortical Organoid Model of Crigler-Najjar Syndrome
Bằng: Abida Islam Pranty, et al.
Được phát hành: (2023-09-01)

Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population
Bằng: Leilei Gu, et al.
Được phát hành: (2022-07-01)

Lipid nanoparticle-encapsulated mRNA therapy corrects serum total bilirubin level in Crigler-Najjar syndrome mouse model
Bằng: Jenny A. Greig, et al.
Được phát hành: (2023-06-01)

Analysis of Genetic Variation of rs4148326 Marker Located in UGT1A1 Gene Region: An Informative Marker for Molecular Diagnosis of Crigler-Najjar Syndrome
Bằng: Zakiyeh Nadeali, et al.
Được phát hành: (2014-01-01)

p.Cys223Tyr mutation causing Crigler–Najjar syndrome type II
Bằng: Qing‐Fang Xiong, et al.
Được phát hành: (2020-10-01)

Commentary: Case Report: Hyperbilirubinemia in Gilbert Syndrome Attenuates Covid-19-Induced Metabolic Disturbances
Bằng: Angelo Minucci, et al.
Được phát hành: (2021-07-01)

Long-Term Effects of Biliverdin Reductase a Deficiency in <i>Ugt1</i><sup>−/−</sup> Mice: Impact on Redox Status and Metabolism
Bằng: Giulia Bortolussi, et al.
Được phát hành: (2021-12-01)

A Quantitative In Vitro Potency Assay for Adeno-Associated Virus Vectors Encoding for the UGT1A1 Transgene
Bằng: Sem J. Aronson, et al.
Được phát hành: (2020-09-01)

Mildly elevated unconjugated bilirubin is associated with reduced platelet activation-related thrombogenesis and inflammation in Gilbert’s syndrome
Bằng: Avinash R. Kundur, et al.
Được phát hành: (2017-11-01)

Response: Commentary: Case Report: Hyperbilirubinemia in Gilbert Syndrome Attenuates Covid-19-Induced Metabolic Disturbances
Bằng: Hayder M. Al-kuraishy, et al.
Được phát hành: (2021-10-01)

Development of a minimal PBPK-QSP modeling platform for LNP-mRNA based therapeutics to study tissue disposition and protein expression dynamics
Bằng: Kenji Miyazawa, et al.
Được phát hành: (2024-01-01)

CRIGLER-NAJJARJEV SINDROM – PRIKAZ PRIMERA
Bằng: Anja Šelih, et al.
Được phát hành: (2022-05-01)

Daurah Al-Mâ’ ‘Inda Zaghloul An-Najjâr
Bằng: Ali Mahfuz Munawar, et al.
Được phát hành: (2018-08-01)

Unconjugated hyperbilirubinemia in the patients with celiac trunk compression syndrome
Bằng: A. M. Ignashov, et al.
Được phát hành: (2013-09-01)

Unconjugated Neonatal Hyperbilirubinemia: Evaluation and Treatment
Bằng: Zaid T Yaseen, et al.
Được phát hành: (2020-12-01)

Unconjugated Neonatal Hyperbilirubinemia: Evaluation and Treatment
Bằng: Zaid T Yaseen, et al.
Được phát hành: (2020-12-01)

Beyond jaundice: Exploring the mysterious nature of Gilbert’s syndrome: A case report and literature review
Bằng: Erwa Elmakki, et al.
Được phát hành: (2024-08-01)

A Perspective on a Possible Relation Between the Psychopathology of the Schizophrenia/Schizoaffective Spectrum and Unconjugated Bilirubin: A Longitudinal Protocol Study
Bằng: João Gama Marques, et al.
Được phát hành: (2018-04-01)

Unconjugated Hyperbilirubinemia after Open Heart Surgery
Bằng: Alfred Ibrahimi, et al.
Được phát hành: (2020-01-01)

Nafs Wahidah Dalam Al-Qur’an Al-Karim Menurut Zaghlul Raghib Muhammad An-Najjar
Bằng: Ahmad Fadly Rahman Akbar, et al.
Được phát hành: (2023-06-01)

Unconjugated bilirubin as a state marker in patients with schizophrenia in acute episode: an Egyptian study
Bằng: Afaf Mohamed Abd-Elsamei, et al.
Được phát hành: (2024-04-01)

Etiologies of Prolonged Unconjugated Hyperbilirubinemia in Neonates Admitted to Neonatal Wards
Bằng: Mohammad Kazem Sabzehei, et al.
Được phát hành: (2015-12-01)

Human Fingerprint Study from Zaqlul An-Najjar's Perspective with the STIFIn Method: Study of the Meaning of Banan in the Qur'an
Bằng: Siti Aisyah, et al.
Được phát hành: (2025-02-01)