Wilson’s disease presenting during pregnancy: A diagnostic and therapeutic dilemma

Durairaj, Jayalakshmi; Shanbhag, Esha R; Veena, P.; Gowda, Mamtha; Keepanasseril, Anish

doi:10.1177/1753495x17743162

Cited by 4 publications

(6 citation statements)

References 10 publications

(11 reference statements)

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“…3.3% of kids born to DPA-using mothers, 2.7% of babies born to trientine-using mothers, and 0% of the babies born to zincusing mothers experienced foetal abnormalities 51 .…”

Section: D-penicillamine: -This Medicine Has Been Demonstratedmentioning

confidence: 98%

“…Analysis of birth abnormalities, spontaneous abortion rate, and maternal problems during pregnancy was done in relation to prenatal care 40 . Wilson's disease can be difficult to diagnose in pregnant women 42 .…”

Section: Wilson Disease During Pregnancymentioning

confidence: 99%

“…2. It is possible that initiation of zinc therapy at the initial admission (15 weeks) might have delayed or prevented the progression of disease process which manifested later with neurologic symptoms 42 . 43 ).…”

Section: Complications Faced During Pregnancymentioning

confidence: 99%

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A Detail Insight of Wilson’s Disease and its Treatment

Patel¹,

Reddy²,

Wankhade

2023

J. Drug Delivery Ther.

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Wilson disease is a rare inherited autosomal recessive genetic disorder caused by abnormal copper accumulation in the body, particularly involving the brain, liver, eyes, and other vital organs. This is also known as hepatolenticular degeneration. It primarily affects the liver and basal ganglia of the brain, but it can affect other vital organs too. It results from a mutation in the gene encoding the Wilson disease protein (ATP7B). It results from a mutation in the gene encoding the Wilson disease protein (ATP7B). A healthy body excretes extra copper through urine after the liver filters it out. Wilson's disease prevents the liver from effectively removing the excess copper. The extra copper then builds up in organs such as the brain, liver, and eyes; which is the reason why symptoms are usually related to the brain and liver. One of the 23 chromosomes in humans, chromosome 13, has a gene that causes Wilson's disease. For six months, a 12-year-old kid with Wilson's disease complained of speech problems, swallowing issues, and general stiffness. About 97 percent of those with Wilson's illness have K-F rings. Vomiting, weakness, ascites, yellowing of the skin, and brain or neurological symptoms like tremors, muscle stiffness, difficulty speaking, personality changes, or visual hallucinations are only a few of the symptoms associated with the liver. Sunflower cataracts are visible in 1 in 5 patients with Wilson's illness. One in 90 people in the general population are carriers of Wilson's illness. A liver biopsy, clinical evaluation, blood testing, urine tests, and a challenging diagnosis are all required. The family members of persons with the condition may be screened via genetic testing. For Wilson's disease to be stopped in its tracks, early detection is essential. Treatment can be done by both ayurvedic remedies using herbs and allopathy using drugs with specific target sites important for managing Wilson disease. WD can be treated with Copper chelating agents and Herbs act as a supporting treatment. Some drugs are still in the clinical trial phase. Keywords: Kayser-Fleischer rings, Wilson disease (WD), ALXN1840, d-Penicillinase, Vatavyadhi.

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“…3.3% of kids born to DPA-using mothers, 2.7% of babies born to trientine-using mothers, and 0% of the babies born to zincusing mothers experienced foetal abnormalities 51 .…”

Section: D-penicillamine: -This Medicine Has Been Demonstratedmentioning

confidence: 98%

Section: Wilson Disease During Pregnancymentioning

confidence: 99%

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A Detail Insight of Wilson’s Disease and its Treatment

Patel¹,

Reddy²,

Wankhade

2023

J. Drug Delivery Ther.

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“…A limited number of retrospective studies and case/series reports [ 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 ] have evaluated maternal and newborn outcomes in WD, and here, we aimed to analyze these studies to provide a more comprehensive overview.…”

Section: Introductionmentioning

confidence: 99%

The Maternal and Fetal Outcomes of Pregnancy in Wilson’s Disease: A Systematic Literature Review and Meta-Analysis

et al. 2022

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Wilson’s disease (WD) is a rare, treatable genetic disorder with multi-organ symptoms related mainly to copper accumulation. Most patients become aware of the disease as young adults, thus knowledge on fertility, pregnancy course and outcome is very important both for patients and physicians. The aim of this study was to perform a systematic review and meta-analysis of pregnancy outcomes in women with WD. This systematic literature review was performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies were identified by searching the PubMed database (up to 12 January 2022) and by screening reference lists. We found 49 publications, including 13 retrospective studies and 36 series and case reports on pregnancy outcomes in WD patients. In total, descriptions of 449 pregnant women with 822 pregnancies were retrieved. Successful deliveries were achieved in 78.3% (644/822) of all pregnancies. Spontaneous abortions were observed in 21.7% (178/822) of pregnancies, more frequently in patients who were untreated 68.6% (96/140). Analyzing maternal outcome, 2.2% (18/822) of pregnancies were associated with the aggravation of neurological symptoms. Symptoms of hepatic deterioration were observed in 4.6% (38/822) of cases. These were usually transient and recovered after pregnancy; however, death due to liver failure was observed in 0.2% (2/822) of cases. Birth defects occurred in 4.7% (39/822) of pregnancies. The available meta-analysis showed statistically significant positive associations between anti-copper treatment and pregnancy outcome. Our results document the significance of anti-copper treatment as the main factor leading to successful pregnancy, as well as positive outcomes for women with WD.

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“…Разбор данного случая считаем актуальным, поскольку описанных случаев манифестации БВК при беременности в литературе немного [9,10]. В случае, описанном В. Г. Вахарловским и соавт., беременность явилась провоцирующим фактором манифестации экстрапирамидной подкорковой недостаточности [9].…”

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Clinical case of manifestation of Wilson – Konovalov’s disease during pregnancy

Solovjeva¹,

Kodyakova²,

Cheskidov³

et al. 2018

Medical news of the North Caucasus

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4. Шестовицкий В. А., Гринштейн Ю. И., Максимова А. В. цитооксидантные характеристики местного фагоцитарноклеточного иммунитета в стадии тяжелого обострения при клинических фенотипах хронической обструктивной болезни легких. Пульмонология. 2017;27(4):478-483. [Shestovitskiy V. A., Grinshteyn Y. I., Maksimova A. V. Cytological and oxidant characteristics of local cellular immunity in acute severe exacerbation of chronic obstructive pulmonary disease. Puimonologiya.-Pulmonology. 2017;27(4):478-483. (In Russ.)].

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Wilson’s disease presenting during pregnancy: A diagnostic and therapeutic dilemma

Cited by 4 publications

References 10 publications

A Detail Insight of Wilson’s Disease and its Treatment

A Detail Insight of Wilson’s Disease and its Treatment

The Maternal and Fetal Outcomes of Pregnancy in Wilson’s Disease: A Systematic Literature Review and Meta-Analysis

Clinical case of manifestation of Wilson – Konovalov’s disease during pregnancy

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