scholarly journals Case Report: First Two Identified Cases of Fabry Disease in Central Asia

2021 ◽  
Vol 12 ◽  
Author(s):  
Francesca Cainelli ◽  
Dias Argandykov ◽  
Dauren Kaldarbekov ◽  
Murat Mukarov ◽  
Liên Tran Thi Phuong ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Central Asia ◽  
Genetic Diseases ◽  
Delayed Diagnosis ◽  
Specific Treatment ◽  
Organ Damage ◽  
Multisystem Disorder ◽  
Family Pedigree ◽  
Rare Genetic Diseases ◽  
Delays In Diagnosis

Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb3) and its derivative globotriaosylsphingosine or lyso-Gb3. Classic FD is a multisystem disorder which initially presents in childhood with neuropathic pain and dermatological, gastrointestinal, ocular, and cochleo-vestibular manifestations. Over time, end-organ damage such as renal failure, cardiac arrhythmia and early stroke may develop leading to reduced life expectancy in the absence of specific treatment.Case presentation: We describe two Kazakh patients who presented in adulthood with a delayed diagnosis. We conducted also a family screening through cascade genotyping.Conclusion: This is the first description of cases of Fabry disease in Central Asia. An extensive family pedigree enabled the identification of ten additional family members. Patients with rare genetic diseases often experience substantial delays in diagnosis due to their rarity and non-specific symptoms, which can negatively impact their management and delay treatment. FD may be difficult to diagnose because of the non-specificity of its early and later-onset symptoms and its X-linked inheritance. Raising awareness of clinicians is important for earlier diagnosis and optimal outcome of specific therapies.

scholarly journals Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

2021 ◽  
Vol 18 (16) ◽  
pp. 8242
Author(s):  
Michał Nowicki ◽  
Stanisława Bazan-Socha ◽  
Mariusz Kłopotowski ◽  
Beata Błażejewska-Hyżorek ◽  
Mariusz Kusztal ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Genetic Diseases ◽  
Healthcare Providers ◽  
Treatment Programs ◽  
Current Therapy ◽  
Term Care ◽  
Pharmacological Chaperone ◽  
Enzyme Replacement ◽  
Home Based ◽  
Rare Genetic Diseases

Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020–2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson–Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson–Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.

scholarly journals The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

2021 ◽  
Author(s):  
Dominique P. Germain ◽  
Sergey Moiseev ◽  
Fernando Suárez‐Obando ◽  
Faisal Al Ismaili ◽  
Huda Al Khawaja ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Fabry Disease ◽  
Genetic Diseases ◽  
Rare Genetic Diseases

The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease

2020 ◽  
Vol 129 (2) ◽  
pp. S61-S62
Author(s):  
Dominique P. Germain ◽  
Faisal Al Ismaili ◽  
Huda Al-Khawaja ◽  
Gheona Altarescu ◽  
Fellype C. Barreto ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Regional Differences ◽  
Genetic Diseases ◽  
Family Screening ◽  
Rare Genetic Diseases

scholarly journals Renal Manifestations of Fabry Disease: A Narrative Review

2021 ◽  
Vol 8 ◽  
pp. 205435812098562
Author(s):  
Cassiano Augusto Braga Silva ◽  
José A. Moura-Neto ◽  
Marlene Antônia dos Reis ◽  
Osvaldo Merege Vieira Neto ◽  
Fellype Carvalho Barreto
Keyword(s):  
Fabry Disease ◽  
Specific Treatment ◽  
Narrative Review ◽  
Decision Making Process ◽  
Formal Tool ◽  
General Aspects ◽  
Progressive Accumulation ◽  
Source Of Information ◽  
Worse Prognosis

Purpose of review: In this narrative review, we describe general aspects, histological alterations, treatment, and implications of Fabry disease (FD) nephropathy. This information should be used to guide physicians and patients in a shared decision-making process. Source of information: Original peer-reviewed articles, review articles, and opinion pieces were identified from PubMed and Google Scholar databases. Only sources in English were accessed. Methods: We performed a focused narrative review assessing the main aspects of FD nephropathy. The literature was critically analyzed from a theoretical and contextual perspective, and thematic analysis was performed. Key findings: FD nephropathy is related to the progressive accumulation of GL3, which occurs in all types of renal cells. It is more prominent in podocytes, which seem to play an important role in the pathogenesis of this nephropathy. A precise detection of renal disorders is of fundamental importance because the specific treatment of FD is usually delayed, making reversibility unlikely and leading to a worse prognosis. Limitations: As no formal tool was applied to assess the quality of the included studies, selection bias may have occurred. Nonetheless, we have attempted to provide a comprehensive review on the topic using current studies from experts in FD and extensive review of the literature.

scholarly journals TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Cells ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 820
Author(s):  
Lorena Kumarasinghe ◽  
Lu Xiong ◽  
Maria Adelaida Garcia-Gimeno ◽  
Elisa Lazzari ◽  
Pascual Sanz ◽  
...  
Keyword(s):  
Common Ancestor ◽  
Genetic Diseases ◽  
Ubiquitin Ligases ◽  
E3 Ubiquitin Ligases ◽  
Lafora Disease ◽  
C Terminus ◽  
Rare Genetic Diseases ◽  
Tripartite Motif ◽  
Trim Proteins ◽  
Ring E3

Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. These two proteins are evolutionary related, share a common ancestor, and both display NHL repeats at their C-terminus. Here, we revmniew the function of these two related E3 ubiquitin ligases discussing their intrinsic and possible common pathophysiological pathways.

Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S24
Author(s):  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-García ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Patricia Baeza-Capetillo ◽  
Jesús Aguirre-Hernández
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Congenital Hypothyroidism ◽  
Genetic Diseases ◽  
Female Child

scholarly journals Posterior Fossa Arachnoid Cyst Masking a Delayed Diagnosis of Hyperparathyroidism in a Child

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
B. Dhamija ◽  
D. Kombogiorgas ◽  
I. Hussain ◽  
G. A. Solanki
Keyword(s):  
Differential Diagnosis ◽  
Primary Hyperparathyroidism ◽  
Posterior Fossa ◽  
Arachnoid Cyst ◽  
Hospital Admissions ◽  
Delayed Diagnosis ◽  
Visual Disturbance ◽  
Organ Damage ◽  
Presenting Symptoms ◽  
History Of

Background. Primary hyperparathyroidism in childhood is a very rare entity, often being diagnosed late after the onset of its presenting symptoms. It most commonly affects patients in their fourth decade of life and beyond. The inclusion of primary hyperparathyroidism in the differential diagnosis is necessary when evaluating patients presenting with nonspecific symptoms such as polyuria, fatigue, weight loss, abdominal pain, nausea, and vomiting.Methods. We report the case of an eleven-year-old girl presenting with three years history of headaches, visual disturbance, along with episodes of emotional lability. Neuroimaging confirmed a large posterior fossa arachnoid cyst. It was decided to manage this lesion conservatively with surveillance. Only after further hospital admissions with recurrent loss of consciousness, dizziness, and nausea to add to her already existing symptoms, a full biochemical and endocrine assessment was performed to look for more specific causes for her presentation. These pointed to a diagnosis of primary hyperparathyroidism.Conclusions. The inclusion of primary hyperparathyroidism in the differential diagnosis should be considered when evaluating paediatric patients presenting with nonspecific (neurological, gastrointestinal, and renal) symptoms in order to establish a prompt diagnosis of the disorder and to avoid severe complications of prolonged hypercalcaemia and end-organ damage.

scholarly journals High-Throughput Sequencing and Rare Genetic Diseases

2012 ◽  
Vol 3 (5) ◽  
pp. 197-203 ◽  
Author(s):  
P. Makrythanasis ◽  
S.E. Antonarakis
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Genetic Diseases ◽  
Rare Genetic Diseases

Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort

2021 ◽  
pp. 104230
Author(s):  
Alex Moretti ◽  
Paola Cianci ◽  
Anita De Paoli ◽  
Francesca Meroni ◽  
Silvia Tajè ◽  
...  
Keyword(s):  
Genetic Diseases ◽  
Burden Of Care ◽  
Rare Genetic Diseases ◽  
Italian Cohort

Ethics and equity in rare disease research and healthcare

2021 ◽  
Author(s):  
Maria Koromina ◽  
Vasileios Fanaras ◽  
Gareth Baynam ◽  
Christina Mitropoulou ◽  
George P Patrinos
Keyword(s):  
Rare Diseases ◽  
Ethical Issues ◽  
Genetic Diseases ◽  
Ethical Framework ◽  
Middle Income ◽  
Next Generation Sequencing Technology ◽  
Ethical Frameworks ◽  
Rare Genetic Diseases ◽  
Conducting Research ◽  
Key Aspects

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.

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