Wilson Disease in Children: Diagnosis and Management Update

KYAMC Journal ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 212-217
Author(s):  
Md Benzamin ◽  
Rafiqul Islam ◽  
Nayma Rahman ◽  
Sharmistha Ghosal ◽  
Rubaiyat Alam
Keyword(s):  
Liver Disease ◽  
Clinical Features ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Variable Degree ◽  
Atp7b Gene ◽  
Diagnosis And Management ◽  
Excess Copper ◽  
Copper Storage

Wilson disease is an autosomal recessive, copper storage disease, caused by a mutation in the ATP7B gene. Due to mutation in ATP7B is decreased secretion of ceruloplasmin into blood and decrease in excretion of copper into bile. Excess copper accumulate to toxic levels,mainly in the liver and secondarily in other organs. Children clinically become symptomatic after the age of 5 years. Clinical features ranges from asymptomatic raised transaminases to variable degree of liver disease, neurological symptoms and according involvement of other oragns. Diagnosis of Wilson disease is challenging. Modified Leip-zig score is useful for diagnosis. Treatment can be done with zinc and other chelators. KYAMC Journal Vol. 11, No.-4, January 2021, Page 212-217

Wilson Disease

1996 ◽  
Vol 17 (12) ◽  
pp. 448-448
Author(s):  
Philip O. Ozuah
Keyword(s):  
Biliary Excretion ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Dietary Copper ◽  
Hepatic Copper ◽  
Excess Copper ◽  
Excessive Accumulation

Wilson disease (hepatolenticular degeneration) is an autosomal recessive, inherited disorder of copper metabolism resulting in excessive accumulation of copper in the liver, brain, and other organs of the body. The manifestations of the disease are related directly to this accumulation of copper. Copper homeostasis normally is a product of the balance between intestinal absorption of dietary copper and hepatic biliary excretion of excess copper. In Wilson disease, incorporation of hepatic copper into ceruloplasmin is defective and excretion of copper in the bile is reduced. A low level of ceruloplasmin, which until a few years ago was erroneously considered to be the basis for the disease, is a consequence of the underlying metabolic defect.

scholarly journals Zinc Monotherapy as an Alternative Treatment Option for Decompensated Liver Disease due to Wilson Disease?

2020 ◽  
Vol 2020 ◽  
pp. 1-5 ◽  
Author(s):  
Hansa Haftu ◽  
Mohammed Mustefa ◽  
Teklu Gebrehiwot
Keyword(s):  
Liver Disease ◽  
Treatment Option ◽  
Alternative Treatment ◽  
Wilson Disease ◽  
Copper Metabolism ◽  
Variable Degree ◽  
Decompensated Liver Disease ◽  
Serum Ceruloplasmin ◽  
Asymptomatic Patients ◽  
Alternative Treatment Option

Background. Wilson disease is a rare metabolic disorder involving copper metabolism, and patients may present with a variable degree of hepatic, neurologic, and psychiatric manifestations. In the case of hepatic presentation, treatment is usually initiated with potentially toxic copper chelators (D-penicillamine or Trenton). Although zinc is of low toxicity and low cost for treatment of Wilson disease, it has been limited to the adjunctive as a single maintenance drug or for asymptomatic patients. The use of zinc monotherapy in patients suffering from a severe liver disease was not well studied. In our case report, we describe a pediatric patient who presented with liver failure and the use of zinc monotherapy in patients with severe hepatic manifestations. Case presentation. A 15-year-old male patient from Ethiopia presented with generalized body swelling (edema and ascites) with yellowish discoloration of his eyes and easy fatigability. He had hyperbilirubinemia, coagulopathy, hypoalbuminemia, and deranged liver enzymes. He had a Keyser–Fleischer ring visible with the naked eye, which was confirmed by slit-lamp examination. He had very low serum ceruloplasmin (<8 mg/L) and high 24-hour urine copper (150 mcg/dl). In accordance with the scoring system proposed by the 8th International Meeting on Wilson Disease and Menkes Disease, a diagnosis of Wilson disease was made. Zinc monotherapy with low copper diet was initiated for decompensated liver disease due to Wilson disease because of the inaccessibility of chelators (D-penicillamine or Trientine). After months of treatment with zinc, the patient experienced normalization of hepatic synthetic function and resolution of hypoalbuminemia and coagulopathy. The patient had also clinically stabilized (ascites, lower extremity swelling, edema, and jaundice were improved. Currently, the patient is on follow-up almost for the last four years in the gastrointestinal clinic. Conclusion. Our case shows that zinc has the potential for treatment in improving liver function. Though zinc has its own side effects, it is important and maybe an alternative treatment option in those with limited resources (not able to access chelators). This example hopefully will encourage future investigations and researches on zinc monotherapy for treating symptomatic decompensated hepatic Wilson disease.

scholarly journals Generalized Hyperpigmentation of Skin as an Atypical Presenting Feature in Wilson Disease

2018 ◽  
Vol 42 (1) ◽  
pp. 43-45
Author(s):  
Abdullahel Amaan ◽  
Md Rukunuzzaman ◽  
Khainoor Zahan ◽  
Khan Lamia Nahid ◽  
ASM Bazlul Karim
Keyword(s):  
Liver Disease ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Whole Body ◽  
Copper Accumulation ◽  
Diagnostic Dilemma ◽  
Common Causes ◽  
The Common

Background: Wilson disease is an autosomal recessive disorder of copper metabolism, where excessive copper accumulation occurs in various tissues. Although hepatic and neurological symptoms predominates, it may present with some other unusual features which sometimes confuses clinicians and makes a diagnostic dilemma. We present here an 11 years old boy presented with gradual darkening of whole body over last 2 months and jaundice for 5 month. His clinical features and laboratory parameters were suggestive of Wilson disease. Being one of the common causes of chronic liver disease (CLD) in childhood, Wilson disease may present with some atypical features like darkening of complexion.Bangladesh J Child Health 2018; VOL 42 (1) :43-45

A Perspective on Copper and Liver Disease in the Dog

2000 ◽  
Vol 12 (2) ◽  
pp. 101-110 ◽  
Author(s):  
Larry P. Thornburg
Keyword(s):  
Liver Disease ◽  
Storage Disease ◽  
Copper Metabolism ◽  
Normal Liver ◽  
Clinical Problem ◽  
Normal Function ◽  
Copper Accumulation ◽  
Hepatic Copper ◽  
Copper Storage ◽  
End Stage

Copper is a ubiquitous trace metal necessary for normal function of a variety of cellular proteins. Intracellular copper metabolism is complex, and only a few of the proteins/genes involved are known. Copper deficiency does not appear to be a clinical problem in dogs. Excess copper accumulation in the liver as a cause of hepatitis and cirrhosis was first demonstrated among Bedlington terriers. Subsequently, copper accumulation in the liver has been shown to occur in several other breeds of dogs. Excess hepatic copper has been found in dogs with normal liver histology, dogs with hepatitis, and dogs with end stage cirrhosis. Evidence is accumulating that copper is a cause of liver disease in breeds of dogs other than Bedlington terriers. Moreover, as more data are accumulated, the copper storage disease appears to have characteristics that are very similar among all of the affected breeds.

scholarly journals Neurological Manifestation of Wilson Disease at an Early Age: A Case Report

2010 ◽  
Vol 23 (1) ◽  
pp. 87-90
Author(s):  
MI Bari ◽  
LS Sharmin ◽  
T Alam
Keyword(s):  
Case Report ◽  
Liver Disease ◽  
Wilson Disease ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Neurological Manifestation ◽  
Early Age ◽  
P Type

Wilson’s disease (hepatolenticuler degeneration), an inborn error of copper metabolism, is an autosomal recessive disorder characterized by degenerative changes in brain, liver disease and Kayser Fleisher (KF) rings in the cornea. It is due to a defect of p-type ATPase which is probably required for normal excretion of copper through bile. Hepatic manifestation of the disease is common at early age and neurological manifestation is common at an older age. We are reporting Wilson disease with neurological manifestation in a 10 year old boy. TAJ 2010; 23(1): 87-90

scholarly journals Epidemiology, Evaluation and Management of Wilson Disease: Review Article

2021 ◽  
pp. 94-103
Author(s):  
Mohammed Salah Hussein ◽  
Turki Mohammed A. Alshehri ◽  
Nada Muidh Aloufi ◽  
Alghamdi, Ibrahim Saeed A. ◽  
Al zahrani, Adel Abdulrahman S. ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Excess Copper ◽  
Liver Decompensation ◽  
Optimum Technique ◽  
The Family ◽  
Key Factor ◽  
The Brain

Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive ailment characterized by aberrant copper buildup in the body, with the brain, liver, and cornea being notably affected. Wilson illness is caused by a mutation in the ATP7B gene on chromosome 13, which regulates the protein transporter that excretes excess copper into the bile and out of the body. So far, over 500 mutations have been discovered. The most common treatment for WD is D-penicillamine (D-PCA). Patients with severe spasms, deformities, or dysphonia, as well as those who are allergic to D-PCA, should avoid it. Early Diagnosis is a key factor in saving patient’s live, and thus prober investigation should be done as soon as possible.  Family screening is a must when a patient is diagnosed to role out any other patients in the family with the disease and because of the strong genetic factor impacting the disease. early detection is critical for initiating therapy in the early, asymptomatic stages of the disease, rather than when liver decompensation or extensive neurological irreversible harm has already occurred. In this circumstance, the optimum technique is to finish copper investigations in the index patient's first- and second-degree relatives. In the present article we’ll be discussing disease prevalence, etiology and more importantly diagnosis and management.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

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