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Hepatic disorders in pregnancy
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Ghassan M. Hammoud, Jamal A. Ibdah
Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatic copper metabolism caused by defective copper transporting ATPase in the liver causing a decrease in biliary excretion of copper and abnormal accumulation of copper in many tissues, notably the liver, brain, kidneys, and cornea. The most common gene mutation described in WD is ATP7B. WD is a rare disorder with a worldwide prevalence of 1:30,000. Clinical manifestations depend on the affected organs and include acute or chronic hepatitis, cirrhosis, hemolysis, chorea, tremors, spasticity, and psychiatric changes. A Kayser–Fleischer ring is often observed once neurologic or psychiatric symptoms develop. The diagnosis is made by a low serum level of ceruloplasmin and an elevated concentration of copper in the liver tissue. Women with WD have high rates of infertility due to menstrual irregularities and recurrent miscarriages (45,46). The former is the result of hormonal changes caused by hepatic failure and copper toxicity and the latter is caused probably by increased copper deposition in the uterus. Hemolysis can be a presenting feature in some cases.
The nervous system and the eye
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
James A.R. Nicoll, William Stewart, Fiona Roberts
Hepatolenticular degeneration (Wilson's disease) is an autosomal recessive disorder of copper metabolism in which cirrhosis of the liver is accompanied by brain changes, mainly in the putamen and caudate nucleus, which become soft, shrunken and ultimately cystic. Neuronal loss is accompanied by large astrocytes with strikingly vesicular swollen nuclei (Alzheimer's type II astrocytes). A greenish-brown discoloration of the cornea near the limbus (known as the Kayser–Fleischer ring) is also due to the deposition of copper.
EMI – neuropsychiatry
Published in Bhaskar Punukollu, Michael Phelan, Anish Unadkat, MRCPsych Part 1 In a Box, 2019
Bhaskar Punukollu, Michael Phelan, Anish Unadkat
3. F. Kayser–Fleischer ring: (copper deposits in the cornea) is nearly always present in patients who have developed neurological symptoms in Wilson’s disease. In Wilson’s disease an enzyme defect in a copper transport molecule leads to toxic levels of free copper in the serum and copper deposits in CNS, liver, kidneys and bones. The adult form of Wilson’s disease presents with progressive neurological and psychiatric symptoms. Tests: ceruloplasmin (decreased), free serum copper (increased), urine 24-hour copper increased, liver biopsy, slit lamp exam.
Hyperglycemic hemichorea due to diabetic striatopathy: case-based review
Published in Current Medical Research and Opinion, 2022
Mihael Emilov Tsalta-Mladenov, Darina Kirilova Georgieva, Silva Peteva Andonova
On admission, the patient presented in good general condition, well oriented, in an afebrile state − 36.7 °C, the regular pulse at 76 beats per minute, and blood pressure 120/75 mm/Hg. The neurological examination revealed bilaterally equal pupils reactive to light and no Kayser-Fleischer ring was appreciated on naked eye examination. All cranial nerves were intact. The motor activity examination presented with preserved muscle strength 5/5 for all limbs, slightly decreased muscle tone for the left upper and lower limb, involuntary hyperkinetic movements for the left limbs and the left half of the face, described as hemichorea. Deep tendon reflexes were normal for the upper limbs and decreased, just elicitable (−3) patellar and Achilles reflexes bilaterally. There were no pathological reflexes from Babinski and Rossolimo groups. The superficial and deep sensation was preserved, and there were no cerebellar signs, whereas the gait was abnormal due to the hyperkinetic dance-like movements. Higher mental functions and all other systemic examinations were within the normal limits.
Refractory liver dysfunction was remarkably improved with chelating agents of Wilson’s disease, in a patient with systemic lupus erythematosus-like syndrome after a parvovirus B19 infection
Published in Modern Rheumatology Case Reports, 2021
Shinichiro Nameki, Yuichi Maeda, Takayuki Shibahara, Jun Fukui, Takeshi Shimizu, Kazuhiko Bessho, Hiroshi Fujiwara
However, dysphagia and hoarseness remained, and transaminase titres increased again although the medications that could induce liver dysfunction were stopped. Subsequent liver biopsy revealed degenerated cells of the liver parenchyma, but indicated no evidence of inflammation, fibrosis, or biliary obstruction. Moreover, plasma cell infiltration and interface hepatitis were not found. Laboratory examination revealed low serum copper level (35 µl g/dL), low serum ceruloplasmin level (9.9 mg/dL), and an excess of copper in the 24-hour urine (124.6 µg), thereby suggesting that the impaired copper metabolism was caused by WD resulting in liver dysfunction. Rhodanine staining of the liver biopsy specimen showed copper deposits in the sinusoidal hepatocytes and macrophages (Figure 3(a,b)). However, hepatic copper content was 46.9 µg/g dry weight. The patient did not show Kayser–Fleischer ring; further, compound heterozygous mutation of ATP7B was not detected, and there was no family history of WD. According to the Ferenci’s scoring system [10], we considered that it was likely that the patient had WD although this was not typical case of WD. His total score using this scoring system was 5 points which included high urinary copper (> two times the upper limit of normal: 2 points), rhodanine-positive hepatocytes (1 point), and low serum ceruloplasmin (<10 mg/dL: 2 points).
Investigation of Heme Oxygenase 2 Enzyme Protein Expression in Keratoconus and Normal Human Corneal Epithelium: An Immunohistochemical Study
Published in Current Eye Research, 2019
Mehtap Caglayan, Sucattin Ilker Kocamıs, Ozge Sarac, Hayriye Tatli Dogan, Pinar Kosekahya, Murat Ayan, Nurullah Cagil
HO-2 is a structural enzyme that has a cytoprotective and anti-apoptotic effect singly; it is also the major indicator of the HO-1 level. HO-1 can also be harmful, depending on its level and activation time.27 Therefore, decreased levels of HO-2 may lead to the uncontrolled release of HO-1 into the keratoconus corneal epithelium. Owing to the increased activity of HO-1, increased catabolism of heme produces an abundance of Fe2+ and it may be the cause of the Fleischer ring that is seen in keratoconus epithelia. Also, Fe2+ may contribute to the oxidative stress in keratoconus that which is related to its pro-oxidative effect. The relationship between corneal epithelial Fe2+ accumulation and HO-2 enzyme can be further investigated in the diseases presenting with corneal iron deposition for better understanding.