scholarly journals AIRE Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Hirotaka Sakaguchi ◽  
Tatsuki Mizuochi ◽  
Masatoshi Haruta ◽  
Ryuta Takase ◽  
Shigeo Yoshida ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Gene Mutation ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
Autoimmune Retinopathy ◽  
Pulse Methylprednisolone ◽  
Aire Gene ◽  
Azathioprine Treatment ◽  
Old Japanese

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disorder caused by mutation in the autoimmune regulator (AIRE) gene. Patients usually are diagnosed at ages between 5 and 15 years when they show 3 or more manifestations, most typically mucocutaneous candidiasis, Addison’s disease, and hypoparathyroidism. APECED-associated hepatitis (APAH) develops in only 10% to 40% of patients, with severity varying from subclinical chronic active hepatitis to potentially fatal acute liver failure (ALF). Ocular abnormalities are fairly common, most often keratopathy but sometimes retinopathy. Here we report a 2-year-old Japanese girl with an AIRE gene mutation who developed APAH with ALF, preceded by autoimmune retinopathy associated with anti-recoverin antibody before major symptoms suggested a diagnosis of APECED. Intravenous pulse methylprednisolone therapy followed by a corticosteroid combined with azathioprine treatment resolved ALF and achieved control of APAH. To our knowledge, our patient is the youngest reported to have ALF resulting from an AIRE gene mutation. Pulse methylprednisolone induction therapy followed by treatment with corticosteroid plus azathioprine may well be effective in other children with APAH and AIRE gene mutations.

scholarly journals Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations

2021 ◽  
Vol 8 ◽  
Author(s):  
Bingxin Jiang ◽  
Fangfei Xiao ◽  
Xiaolu Li ◽  
Yongmei Xiao ◽  
Yizhong Wang ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Gene Mutations ◽  
Kidney Injury ◽  
Compound Heterozygote ◽  
Healthy Children ◽  
Whole Exome ◽  
Threatening Condition ◽  
Chinese Girl ◽  
Life Threatening

Acute liver failure (ALF) in childhood is a rapidly progressive, potentially life-threatening condition that occurs in previously healthy children of all ages. However, the etiology of ~50% of cases with pediatric ALF remains unknown. We herein report a 4-year-old Chinese girl with recurrent ALF (RALF) due to a mutation in the neuroblastoma amplified sequence (NBAS) gene. The patient had suffered from multiple episodes of fever-related ALF since early childhood. She had also suffered from acute kidney injury, hypertension, mild pulmonary hypertension, pleural effusion, and hypothyroidism. A novel compound heterozygote mutation, c.3596G> A (p.C1199Y)/ex.9del (p.216-248del), in the NBAS gene was identified by whole-exome sequencing (WES). The missense mutation c.3596G> A (p. C1199Y) was inherited from her father, and ex.9del (p.216-248del) was inherited from her mother. The patient was managed with intensive treatments, such as renal replacement therapy (CRRT), intravenous antibiotics, and glucose infusion, and was discharged after full recovery. We identified a novel compound heterozygote mutation in the NBAS gene that caused fever-related RALF in a Chinese child, which further expands the mutational spectrum of NBAS.

scholarly journals WES Reveals Novel Heterozygous NBAS Gene Mutations Associated with Fanconi Syndrome in a Patient with SOPH Syndrome: Case Report

2021 ◽  
Vol 3 (1) ◽  
pp. 1-10
Author(s):  
Thong JY ◽  
Li Z ◽  
Halim A ◽  
Wang X ◽  
Halim M ◽  
...  
Keyword(s):  
Vitamin D ◽  
Case Report ◽  
Early Detection ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Optic Atrophy ◽  
Fanconi Syndrome ◽  
Clinical Laboratory ◽  
Gene Mutations ◽  
Whole Exome

Variations in the NBAS gene is known to cause a spectrum of phenotypes ranging from isolated recurrent acute liver failure (RALF) to a multisystemic presentation known as SOPH syndrome. Patients with SOPH present with optic atrophy, acute liver failure, short stature, and Pelger-Huet anomaly. We report the presence of a novel pair of biallelic heterozygous mutations c.5139-5T>G and c.2203-2A>G in the NBAS gene of a patient with SOPH syndrome. A 9-year-old patient was clinically diagnosed with SOPH following clinical laboratory analyses. Current interventions for managing the disease encompass IVIG, methylprednisolone, calcium, and vitamin D administration. Whole-exome sequencing (WES) results showed two mutations: c.2203-2A>G and c.5139-5T>G, in the NBAS gene, which had not been previously reported. Notably, we hypothesize that NBAS mutations could potentially contribute to the development of Fanconi syndrome, a clinical diagnosis reported in our patient. Our study also supports the renaming of SOPH to SOPHIA to allow early detection and effective treatment.

scholarly journals Wilson’s Disease in Children : An Update

2020 ◽  
Vol 2 (Number 1) ◽  
pp. 27-30
Author(s):  
Sadika Kadir ◽  
Tamanna Begum ◽  
Mohammed Ashraful Haque ◽  
Nirupama Najim ◽  
Shayma Chakravarty ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Wilson’S Disease ◽  
Psychiatric Symptoms ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Atp7b Gene ◽  
Biochemical Tests ◽  
Serum Ceruloplasmin

Wilson’s Disease is an autosomal recessive disorder of copper metabolism due to ATP7B gene defect. This defect result in progressive toxic accumulation of copper in liver, CNS, cornea, skeletal system and other organs. Clinical presentations of Wilson’s disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, whereas neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24-hour urinary copper excretion. Final diagnosis of WD can be established using a diagnostic scoring system based on symptoms, biochemical tests assessing copper metabolism, and molecular analysis of mutations in the ATP7B gene. Pharmacological treatment is life-long and aims at removal of copper excess by chelating agents as D-penicillamine, trientine or inhibition of intestinal copper absorption with zinc salts. Acute liver failure often requires liver transplantation. Genetic therapy and haplocyte transplantation represent future curative treatment for Wilson’s disease.

scholarly journals Primary Hepatic Follicular Lymphoma Presenting as Sub-acute Liver Failure: A Case Report and Review of the Literature

2019 ◽  
Vol 12 ◽  
pp. 2632010X1982926 ◽  
Author(s):  
Mary-Jane OU Williams ◽  
Hossein Akhondi ◽  
Omar Khan
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Follicular Lymphoma ◽  
B Cell ◽  
Case Reports ◽  
Case Series ◽  
B Cell Lymphoma ◽  
Non Hodgkin Lymphoma ◽  
Old Japanese ◽  
Synthetic Function

Sub-acute liver failure is a term that describes the relatively sudden loss of liver function, usually >21 days and <26 weeks, with impaired synthetic function and associated encephalopathy in a person with no pre-existing liver disease or cirrhosis. It is commonly caused by viruses and drugs, less so by malignancy. Our patient is a 71-year-old Japanese man who presented with signs of sub-acute liver failure. A subsequent liver biopsy demonstrated involvement by B-cell non-Hodgkin lymphoma. Evaluation of the bone marrow demonstrated significant marrow involvement by B-cell lymphoma. The fluorescence in situ hybridization (FISH) returned positive for t(14; 18). Noted was the patient’s clinical presentation of cholestasis secondary to hepatic lymphoma with no evidence of lymphadenopathy or peripheralized lymphoma. Given the disease distribution, the overall findings are consistent with primary hepatic follicular lymphoma as described in few case reports and small case series in the literature.

scholarly journals Application of Biotechnology in Detection ATP7B Gene Mutation in Vietnamese Children with Wilson Disease and Screening Target Mutation for Their Family Members

2020 ◽  
Vol 4 (5) ◽  
Author(s):  
Mai Huong Nguyen ◽  
Pham Anh Hoa Nguyen ◽  
Diem Ngoc Ngo
Keyword(s):  
Gene Mutation ◽  
Direct Sequencing ◽  
Family Members ◽  
Gene Mutations ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Clinical Feature ◽  
Atp7b Gene ◽  
Exon 2 ◽  
P Type

Background/Purpose: Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a asymptomatic diagnosis for their familial members. Methods: Forty-three WD patients and their 67 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. Results: A total of 27 different mutations were detected in this study, which accounted for 96.8%. Of which, S105* was the most prevalent mutation, accounting for 37.1%. Following was the five other mutations, including I1148T (7.3%), IVS14-2A>G (6.6%), L1371P (6.0%), T850I and V176SfsX28 (5.3%). Among 47 genotypes, ratio of compound heterozygote was 62.8%. Most of the mutations in the study occurred in exon 2 (43.0%), exon 16 (9.9%), exon 8 (8.6%), exon 14 and intron 14 (6.6%). A total of 13 affected siblings were identified by target mutation on ATP7B gene which was identified in the proband. Among them, 5 cases were asymptomatic that would be treated soon to prevent clinical feature. This study also discoved 65 carriers in their family members. Conclusion: The findings’ highest diagnostic importance for patients and their family members is in prognosis and the prevention of morbidity and mortality.

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