Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.

This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis are rare causes of cholestasis. LAL-D is a rare disease that can appear similar to NAFLD in adults. PMID: 31582009 [PubMed - in process]
Source: The Medical Clinics of North America - Category: General Medicine Authors: Tags: Med Clin North Am Source Type: research

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Authors: Sun L, Yin H, Liu M, Xu G, Zhou X, Ge P, Yang H, Mao Y Abstract Albumin is the most abundant plasma protein and albumin infusion is commonly used. Conventionally, the biologic and therapeutic effects of albumin have been thought to be due to its oncotic properties. However, albumin has a variety of biologic functions, including molecular transport, anti-oxidation, anti-inflammation, endothelial stabilization, anti-thrombotic effects, and the adjustment of capillary permeability. Despite this, the functions of albumin have not been thoroughly investigated. Recent studies have shown non-alcoholic fatty liver...
Source: Annals of Medicine - Category: Internal Medicine Tags: Ann Med Source Type: research
This week, a new 3D printer allows quick shifting between many materials, and understanding the link between gut microbes and liver disease.00:46 A new dimension for 3D printersA new nozzle lets a 3D printer switch between materials at a rapid rate, opening the door to a range of applications. Research Article: Skylar-Scott et al.; News and Views: How to print multi-material devices in one go08:07 Research HighlightsThe slippery secrets of ice, and cells wrapping up their nuclei. Research Highlight: Viscous water holds the secret to an ice skater’s smooth glide; Research Highlight:&...
Source: Nature Podcast - Category: Science Authors: Source Type: podcasts
ConclusionSince only 2 out of 38 SIPs were positive for HPV (type 11), and at the same time p16 was positive in epithelia in all samples and in 37 of 38 papilloma lesions of the samples, it is concluded that p16 cannot be used as a surrogate marker for high-risk HPV-infection in SIP. We are currently planning a prospective, multicenter study in order to increase the study power and in order to be able to better evaluate the clinical implications of HPV-and p16 in SIP.
Source: European Annals of Otorhinolaryngology, Head and Neck Diseases - Category: ENT & OMF Source Type: research
Conclusions: Key HIV-related parameters reflective of nonacute infection (increased duration of HIV and duration of antiretroviral therapy use) or relatively reduced immunologic function (lower CD4 count) were linked to reduced expression of brown and beige fat gene in the abdominal subcutaneous adipose depot. Clinical Trial Registration: NCT01098045.
Source: JAIDS Journal of Acquired Immune Deficiency Syndromes - Category: Infectious Diseases Tags: Translational Research Source Type: research
Gene Therapy, Published online: 13 November 2019; doi:10.1038/s41434-019-0110-7A rare disease patient/caregiver perspective on fair pricing and access to gene-based therapies
Source: Gene Therapy - Category: Genetics & Stem Cells Authors: Source Type: research
F Hu, Y Zhang, Z YiNigerian Journal of Clinical Practice 2019 22(11):1617-1620 Budd–Chiari syndrome (BCS) is a rare disease characterized by obstruction of hepatic venous outflow tract with diversified etiologies. Sea-blue histiocytosis (SBH) is a kind of storage diseases defined by the deposition of abundant sea-blue histiocytes in various organs and can lead to hepatosplenomegaly, cirrhosis, or even liver failure. The association between BCS and SBH has never been reported before. Here, we report a patient with BCS presenting with hepatosplenomegaly, portal hypertension, and pancytopenia who was later confirmed to also have SBH.
Source: Nigerian Journal of Clinical Practice - Category: Rural Health Authors: Source Type: research
We report the case of a 55-year-old diabetic Nigerian woman who presented with typical NL lesions on the lower legs and who responded very well to topical betamethasone dipropionate 0.05% cream. We also briefly review the probable underlying mechanisms leading to the condition and the various treatments that have been found useful.
Source: Nigerian Journal of Clinical Practice - Category: Rural Health Authors: Source Type: research
Publication date: Available online 12 November 2019Source: Food BioscienceAuthor(s): Zhihui Yu, Ning Wang, Fang Geng, Meihu MaAbstractObesity induced by consuming a high-fat diet (HFD) is a major risk for nonalcoholic fatty liver disease, which has become a worldwide health problem. To study the effects of high-density lipoproteins of egg yolk (EYHDL) on mice with HFD induced obesity, lipidomic analyses using ultra performance liquid chromatography/tandem mass spectrometry (UPLC-MS/MS) was done with serum and liver samples on 60 and 100 days. The results showed that EYHDL significantly alleviated mouse obesity by decreasin...
Source: Food Bioscience - Category: Food Science Source Type: research
This JAMA Patient Page describes nonalcoholic fatty liver disease and how it is diagnosed and treated.
Source: JAMA - Category: General Medicine Source Type: research
Treatment with metformin, the biguanide of hepatic insulin sensitizer, in patients with non-alcoholic fatty liver disease (NAFLD) has been reported with contradictory findings regarding the effectiveness on bl...
Source: Diabetology and Metabolic Syndrome - Category: Endocrinology Authors: Tags: Research Source Type: research
More News: Alpha-1 Antitrypsin Deficiency | Brain | Cholestasis | General Medicine | Genetics | Liver | Liver Disease | Neurology | Non-alcoholic Fatty Liver Diseases (NAFLD) | Obstetric Cholestasis | Rare Diseases | Urology & Nephrology | Wilson's Disease