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 A Case of Exertional Heat Stroke Complicated by Hypoxic Hepatitis

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Bertram K. Woitok ◽  
Shawki Bahmad ◽  
Gregor Lindner
Keyword(s):  
Supportive Care ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Multiorgan Failure ◽  
Heat Stroke ◽  
Exertional Heat Stroke ◽  
Hypoxic Hepatitis ◽  
Threatening Condition ◽  
Life Threatening ◽  
Delayed Referral

Background.Exertional heat stroke is a life-threatening condition often complicated by multiorgan failure. We hereby present a case of a 25-year-old male presenting with syncope after a 10  km run in 28°C outside temperature who developed acute liver failure. Case Presentation. Initial temperature was found to be 41.1°C, and cooling measures were rapidly applied. He suffered from acute renal failure and rhabdomyolysis and proceeded to acute liver failure (ASAT 6100 U/l and ALAT 6561 U/l) due to hypoxic hepatitis on day 3. He did not meet criteria for emergency liver transplantation and recovered on supportive care. Conclusions. Acute liver failure due to heat stroke is a life-threatening condition with often delayed onset, which nevertheless resolves on supportive care in the majority of cases; thus, a delayed referral to transplant seems to be reasonable.

scholarly journals Plasma Exchange as a Rescue Therapy for Acute Liver Failure

2021 ◽  
Author(s):  
Nupur B Patel ◽  
Anand Sharma ◽  
Itish Patnaik ◽  
Ashok Kumar
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Plasma Exchange ◽  
Resource Constraints ◽  
Rescue Therapy ◽  
Therapeutic Option ◽  
Liver Function Tests ◽  
Threatening Condition ◽  
Life Threatening

Acute Liver Failure (ALF) is a life-threatening condition and often necessitates Liver Transplantation (LT). However, LT is not available to most patients in developing countries due to resource constraints. Here, authors presents a case of 30-year-old female with ALF and fulfilled the criteria for LT. The aetiology of ALF could not be diagnosed in her. Due to the lack of LT facilities, she was offered plasma exchange as a therapeutic option, which resulted in improvement in sensorium and Liver Function Tests (LFT) {bilirubin, International Normalised Ratio (INR), Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT)} over a period of two weeks. She was discharged and was doing well during follow-up. Plasma exchange is a less studied but potential treatment option for ALF when LT is not feasible.

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 Undifferentiated Altered Mental Status: A Late Presentation of Toxic Acetaminophen Ingestion

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
Thomas E. Robey ◽  
Edward R. Melnick
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Mental Status ◽  
Altered Mental Status ◽  
Late Presentation ◽  
Rapid Identification ◽  
Threatening Condition ◽  
Life Threatening ◽  
Acetaminophen Intoxication ◽  
Physical Exam Finding

Altered mental status is a common undifferentiated presentation in the emergency department. We describe a case of acetaminophen-induced acute liver failure that was diagnosed and treated prior to obtaining definitive historical or laboratory information about the etiology. The physical exam finding of scleral icterus in this case was a key element to rapid identification and treatment of this life-threatening condition. A discussion of appropriate N-acetylcysteine treatment for acute liver failure and acetaminophen intoxication is included.

scholarly journals Wilson Disease-Induced Acute Liver Failure (NWI = 13) Salvaged without Liver Transplant by Plasmapheresis

2021 ◽  
Vol 11 (01) ◽  
pp. e145-e147
Author(s):  
Nida Mirza ◽  
Ravi Bharadwaj ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Liver Transplantation ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Wilson Disease ◽  
Prognostic Score ◽  
Prognostic Index ◽  
Kidney Injury ◽  
Copper Metabolism ◽  
Life Saving ◽  
The Brain

AbstractWilson disease (WD) is a disorder of copper metabolism resulting in accumulation of copper in vital organs of the human body, predominantly in the liver and the brain. Acute liver failure in WD has a bad prognosis, especially with a score ≥11 in the revised WD prognostic index; emergency liver transplantation is considered the only life-saving option in this scenario. Here, we reported a girl patient with WD-induced liver failure and poor prognostic score who was rescued by plasmapheresis. She also manifested severe Coombs negative hemolytic anemia and acute kidney injury. This case report highlights the utility of an adjunctive modality besides liver transplantation for the management of fulminant liver failure caused by WD.

Acute kidney injury in acute liver failure: a review

2013 ◽  
Vol 7 (8) ◽  
pp. 701-712 ◽  
Author(s):  
Joanna K Moore ◽  
Eleanor Love ◽  
Darren G Craig ◽  
Peter C Hayes ◽  
Kenneth J Simpson
Keyword(s):  
Acute Kidney Injury ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Kidney Injury

Acute kidney injury following acute liver failure: potential role of systemic cadmium mobilization?

2012 ◽  
Vol 38 (3) ◽  
pp. 467-473 ◽  
Author(s):  
Perrine Hoet ◽  
Vincent Haufroid ◽  
Gladys Deumer ◽  
Xavier Dumont ◽  
Dominique Lison ◽  
...  
Keyword(s):  
Acute Kidney Injury ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Potential Role ◽  
Kidney Injury

Leptospirosis

2015 ◽  
Author(s):  
Emmanuel A. Burdmann
Keyword(s):  
Acute Kidney Injury ◽  
Antibiotic Therapy ◽  
Liver Failure ◽  
Tubulointerstitial Nephritis ◽  
Kidney Injury ◽  
Pulmonary Haemorrhage ◽  
Zoonotic Diseases ◽  
Kidney Involvement ◽  
Life Threatening ◽  
Red Eyes

Leptospirosis is one of the most prevalent zoonotic diseases worldwide. Pathogenic spirochaetes are shed in the urine of infected mammals to the environment. Humans are infected through contact with contaminated material. Leptospirosis is more prevalent in tropical and subtropical areas, but exists in all continents except Antarctica. The disease is difficult to diagnose and hence frequently neglected. Its clinical picture ranges from a mild flu-like disease to a life-threatening form with pulmonary haemorrhage, liver failure and acute kidney injury (AKI), called Weil disease, which may affect 10% of those with clinical disease. Typically, fever, myalgia and headache progress to nausea and vomiting, jaundice, red eyes, and other manifestation affecting skin, brain, and other organs.Kidney involvement, characterized by acute tubulointerstitial nephritis, is nearly universal. It may be clinically manifested as a tubulopathy with urinary electrolytes wasting, hypokalaemia and hypomagnesaemia and/or as AKI, which is more frequently non-oliguric. Antibiotic therapy may reduce hospitalization time and AKI frequency. Otherwise management is supportive, including timely and adequate dialysis support.

Sign in / Sign up

Export Citation Format

Share Document