Importance of a Liver Biopsy in the Management of Wilson Disease

Oe, Shinji; Honma, Yuichi; Yabuki, Kei; Morino, Kahori; Kumamoto, Keiichiro; Hayashi, Tsuguru; Kusanaga, Masashi; Ogino, Noriyoshi; Minami, Sota; Shibata, Michihiko; Abe, Shintaro; Harada, Masaru

doi:10.2169/internalmedicine.3440-19

Cited by 6 publications

(4 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…During laparoscopy, the surgeon can directly visualize the liver and assess its appearance, size, and texture, as well as obtain samples for biopsy. Liver biopsy is an essential diagnostic tool for pediatric WD because it can confirm the presence of copper accumulation and help determine the extent of liver damage [58,59]. The biopsy sample can also help rule out other liver diseases and provide critical information for determining the best course of treatment.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson’s Disease—Case Report and Literature Review

et al. 2023

View full text Add to dashboard Cite

Wilson’s disease (WD) is an autosomal recessive disorder, in which the metabolism of copper is affected by metal accumulation in several organs that causes gradual organ degeneration. Since Wilson’s initial description of WD over a century ago, there have been significant improvements in understanding and managing the condition. Nevertheless, the ongoing gap between the onset of symptoms and diagnosis highlights the difficulties in identifying this copper overload disorder early. Despite being a treatable condition, detecting WD early remains a challenge for healthcare professionals at all levels of care, likely due to its rarity. The key challenge is, therefore, to educate physicians on how to identify atypical or infrequent symptoms of WD, prompting them to consider the diagnosis more carefully. The purpose of our review is to draw attention to the difficulties associated with diagnosing pediatric WD, starting from our personal experience of a complex case and then examining relevant literature. In summary, the diagnosis of WD in children is intricate and requires a heightened level of suspicion to identify this infrequent condition. A thorough evaluation by a multidisciplinary team of physicians, along with genetic testing, histopathologic examination, and specialized imaging studies, may be necessary to confirm the diagnosis and guide treatment.

show abstract

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson’s Disease—Case Report and Literature Review

et al. 2023

View full text Add to dashboard Cite

show abstract

“…The required dried weight liver tissue for proper diagnosis of WD is a cumbersome against LB. The wide range of histopathological presentations might also be another con [ 31 ]. In accord, LB was needed in only in 10 cases (3.63%) in this research that were with clinical and laboratory inconclusive data.…”

Section: Discussionmentioning

confidence: 99%

Role of liver biopsy in management of liver diseases without hepatic nodules following end of the interferon era: experience of a tertiary referral center

et al. 2022

View full text Add to dashboard Cite

Liver biopsy (LB) is the cornerstone in the management of patients with liver diseases. However, a lot of queries had emerged about its role following the end of the interferon era. The aim of this study was to re-evaluate the current role of LB in the diagnosis of liver diseases. All patients who had underwent LB at the Department of Hepatology, National Liver Institute, from January 2015 through December 2018 were recruited. Indications for LB, pathology reports and medical records of all cases were retrieved, reviewed and statistically analyzed. A total of 275 liver biopsies were collected, 191 males and 84 females with mean age 41.22 ± 13.36 years. Etiological diagnosis made by histopathological evaluation was 48 drug-induced liver injury (DILI), 42 nonalcoholic fatty liver disease (NAFLD), 34 chronic hepatitis B, or C with cholestasis, 29 autoimmune hepatitis, 34 primary sclerosing cholangitis, 13 primary biliary cholangitis, 7 autoimmune overlap syndrome, 13 active bilharziasis and 10 Wilson’s disease. Minor number of cases was diagnosed by different other etiologies. Initial diagnosis was made by liver biopsy and confirmed by clinical response and laboratory findings. Liver biopsy is still considered as the gold standard diagnostic measure of different liver diseases representing an integral component of management decisions in hepatology.

show abstract

“…Dysregulation of copper (I) and (II) (Cu 1 + , Cu 2 + ) levels are linked to Alzheimer's [103][104][105] and Wilson's disease. [106,107] Elevated Cu 2 + in Alzheimer's is believed to promote protein aggregation, contributing to plaque and tangle formation, while in Wilson's disease, Cu 1 + accumulation can result in chronic liver damage. Consequently, Cu is a valuable molecular target for imaging.…”

Section: Detection Of Cu 2 +mentioning

confidence: 99%

Xanthene‐Based Dyes for Photoacoustic Imaging and their Use as Analyte‐Responsive Probes

Brøndsted,

Stains

2024

Chemistry A European J

View full text Add to dashboard Cite

Developing imaging tools that can report on the presence of disease‐relevant analytes in multicellular organisms can provide insight into fundamental disease mechanisms as well as provide diagnostic tools for the clinic. Photoacoustic imaging (PAI) is a light‐in, sound‐out imaging technique that allows for high resolution, deep‐tissue imaging with applications in pre‐clinical and point‐of‐care settings. The continued development of near‐infrared (NIR) absorbing small‐molecule dyes promises to improve the capabilities of this emerging imaging modality. For example, new dye scaffolds bearing chemoselective functionalities are enabling the detection and quantification of disease‐relevant analytes through activity‐based sensing (ABS) approaches. Recently described strategies to engineer NIR absorbing xanthenes have enabled development of analyte‐responsive PAI probes using this classic dye scaffold. Herein, we present current strategies for red‐shifting the spectral properties of xanthenes via bridging heteroatom or auxochrome modifications. Additionally, we explore how these strategies, coupled with chemoselective spiroring‐opening approaches, have been employed to create ABS probes for in vivo detection of hypochlorous acid, nitric oxide, copper (II), human NAD(P)H: quinone oxidoreductase isozyme 1, and carbon monoxide. Given the versatility of the xanthene scaffold, we anticipate continued growth and development of analyte‐responsive PAI imaging probes based on this dye class.

show abstract

Importance of a Liver Biopsy in the Management of Wilson Disease

Cited by 6 publications

References 11 publications

Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson’s Disease—Case Report and Literature Review

Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson’s Disease—Case Report and Literature Review

Role of liver biopsy in management of liver diseases without hepatic nodules following end of the interferon era: experience of a tertiary referral center

Xanthene‐Based Dyes for Photoacoustic Imaging and their Use as Analyte‐Responsive Probes

Contact Info

Product

Resources

About