Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

Zeynelabidin, Sara; Klouwer, Femke C. C.; Meijers, Joost C. M.; Suijker, Monique H.; Engelen, Marc; Poll-Thé, Bwee Tien; Ommen, C. Heleen van

doi:10.1007/s10545-017-0113-8

Cited by 9 publications

(8 citation statements)

References 16 publications

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“…Multiple reports on characterization and natural history of clinical findings in individuals with ZSD provided important information on the wide spectrum of manifestations in this disorder [ 14 , 16 , 17 , 18 , 20 ]. However, few identify the common clinical findings specific to disease severity categories and selected proxies for disease severity have been variable across studies.…”

Section: Discussionmentioning

confidence: 99%

“…Patients diagnosed with ZSD present with extensive clinical heterogeneity and symptoms across multiple organs as a result of decreased or absent peroxisome function. Clinical manifestations include low muscle tone, facial dysmorphisms, impaired growth, sensory and neurological dysfunction, renal and endocrine insufficiency, skeletal abnormalities, and developmental delays [ 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 ].…”

Section: Introductionmentioning

confidence: 99%

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Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Bose

Yergeau

D'Souza

et al. 2022

Cells

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Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome biogenesis that affects multiple organ systems and presents with broad clinical heterogeneity. Although severe, intermediate, and mild forms of ZSD have been described, these designations are often arbitrary, presenting difficulty in understanding individual prognosis and treatment effectiveness. The purpose of this study is to conduct a scoping review and meta-analysis of existing literature and a medical chart review to determine if characterization of clinical findings can predict severity in ZSD. Our PubMed search for articles describing severity, clinical findings, and survival in ZSD resulted in 107 studies (representing 307 patients) that were included in the review and meta-analysis. We also collected and analyzed these same parameters from medical records of 136 ZSD individuals from our natural history study. Common clinical findings that were significantly different across severity categories included seizures, hypotonia, reduced mobility, feeding difficulties, renal cysts, adrenal insufficiency, hearing and vision loss, and a shortened lifespan. Our primary data analysis also revealed significant differences across severity categories in failure to thrive, gastroesophageal reflux, bone fractures, global developmental delay, verbal communication difficulties, and cardiac abnormalities. Univariable multinomial logistic modeling analysis of clinical findings and very long chain fatty acid (VLCFA) hexacosanoic acid (C26:0) levels showed that the number of clinical findings present among seizures, abnormal EEG, renal cysts, and cardiac abnormalities, as well as plasma C26:0 fatty acid levels could differentiate severity categories. We report the largest characterization of clinical findings in relation to overall disease severity in ZSD. This information will be useful in determining appropriate outcomes for specific subjects in clinical trials for ZSD.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Bose

Yergeau

D'Souza

et al. 2022

Cells

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“…Vitamin K deficiency is partly corrected by administering vitamin K therapy orally. 22 Currently, there are no curative options for ZSD patients.…”

Section: Discussionmentioning

confidence: 99%

Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder

Chhabra

Balakrishnan

Amboiram

et al. 2022

Journal of Neonatology

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Among the Zellweger spectrum disorders of peroxisomal biogenesis, Zellweger syndrome (ZS) is the most severe of identified disorders in this spectrum. Clinical features include facial dysmorphism, neuronal migration defects, failure to thrive, and hearing and visual impairment. Intracellular accumulation of very-long-chain fatty acid (VLCFA) damages developing organs (eg, liver, bone, kidneys, brain).It is diagnosed by estimating VLFCA and plasmalogen levels and genetic testing modalities. Mutations in the PEX group of genes are seen. The current case report highlights a case of ZS where the patient was thriving at 7 months with developmental delay, hypotonia, deafness, and seizures. The patient had chronic diarrhea and infantile spasms which are rarely described in peroxisomal biogenesis disorders. We report this child to highlight the diagnostic algorithmic approach of peroxisomal disorder.

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“…These issues can be partially alleviated through oral or IV vitamin K supplementation, which improves overall vitamin K status and blood clotting capabilities [72,73]. Individuals with cystic fibrosis or those undergoing anticoagulant therapy are at increased risk for vitamin K deficiency, affecting coagulation and elevating the risk of bleeding during dental procedures.…”

Section: Oral Manifestations Of Vitamin K Deficiencymentioning

confidence: 99%

The Impact of Vitamin Deficiencies on Oral Manifestations in Children

Lešić,

Ivanišević,

Špiljak

et al. 2024

Dentistry Journal

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Vitamins play a vital role in human health, particularly in the development and maintenance of oral health in children. These nutrients are broadly categorized into fat-soluble and water-soluble types, crucial for children’s well-being. The objective of this study is to investigate the impact of vitamin deficiencies on the oral health of children, focusing on how these deficiencies contribute to various oral health issues and determining the relationship between specific vitamin shortages and oral diseases. Findings indicate that shortages in vitamins A and D lead to enamel issues and a higher susceptibility to dental diseases, vitamin E assists in treating oral mucositis, and vitamin K is essential for blood clotting in dental surgeries. Deficits in B-complex and vitamin C result in enamel hypomineralization and soft tissue ailments, including aphthous stomatitis and gingival petechiae. Additionally, a lack of vitamin B7 compromises the immune response, increasing oral candidiasis risk. Therefore, vitamin deficiencies markedly affect children’s oral health, highlighting the need for joint efforts between dental professionals and caregivers for effective pediatric care. Addressing vitamin deficiencies through supplementation and tailored dental care emphasizes the significance of nutritional health in children’s overall and dental well-being, advocating for a collaborative approach to achieve optimal health outcomes.

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Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

Cited by 9 publications

References 16 publications

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder

The Impact of Vitamin Deficiencies on Oral Manifestations in Children

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