scholarly journals Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

2018 ◽  
Vol 07 (04) ◽  
pp. 180-184
Author(s):  
Kishore Raja ◽  
Ashish Garg ◽  
Deborah Barbouth ◽  
Paolo Rusconi ◽  
Sudheer Gorla
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Missense Mutation ◽  
Gene Mutation ◽  
Early Onset ◽  
Poor Prognosis ◽  
Metabolic Disorders ◽  
Age Of Onset ◽  
Case Reports ◽  
Genetic Syndromes ◽  
Prevalent Form

AbstractHypertrophic cardiomyopathy (HCM) is the second most prevalent form of cardiomyopathy in children. The etiology of the HCM is heterogeneous, so is the age of onset of symptoms. The HCM associated with metabolic disorders and genetic syndromes presents early in childhood. There are very few case reports of early-onset infantile HCM secondary to the PRKAG2 gene. Here, we report a case of HCM in a neonate diagnosed prenatally and eventually diagnosed with a missense mutation in the PRKAG2 gene.

scholarly journals Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation inCDKN1B

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Marianne S. Elston ◽  
Goswin Y. Meyer-Rochow ◽  
Michael Dray ◽  
Michael Swarbrick ◽  
John V. Conaglen
Keyword(s):  
Primary Hyperparathyroidism ◽  
Missense Mutation ◽  
Gene Mutation ◽  
Germline Mutation ◽  
Early Onset ◽  
Middle Age ◽  
Age Of Onset ◽  
Germline Mutations ◽  
Germline Gene ◽  
Exon 1

Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes:MEN1, CASR, orCDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations inCDKN1Band those patients with primary hyperparathyroidism have almost exclusively been women who present in middle age suggesting that the age of onset of PHPT in MEN4 may be later than that of MEN1. We present a case of apparently sporadic PHPT presenting in adolescence with single gland disease associated with a novelCDKN1Bgermline mutation (heterozygote for a missense mutation in exon 1 of theCDKN1Bgene (c.378G>C) (p.E126D)). The implication from this case is thatCDKN1Bgermline mutations may be associated with PHPT at an earlier age than previously thought.

scholarly journals Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Systematic Review of Case Reports

2020 ◽  
Vol 8 ◽  
Author(s):  
YunFan Dai ◽  
XiuYun Liu ◽  
ZhiPeng Zhao ◽  
JianXin He ◽  
QingQin Yin
Keyword(s):  
Early Onset ◽  
Antinuclear Antibodies ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Case Reports ◽  
Disease Onset ◽  
Skin Lesions ◽  
Therapeutic Effects ◽  
Jak Inhibitors ◽  
The Difference

Objective: To summarize and analyze the manifestations of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI).Methods: A systematic literature review was performed including cases from January 1, 2014, to February 1, 2020, using PubMed, OVID, CNKI, and WanFang. This included all the literature containing comparatively complete clinical data. Statistical analysis was performed using SPSS 20.0 to analyze the difference in age of onset, severity of skin lesions, and respiratory symptoms between SAVI patients with p.N154S and p.V155M mutations.Results: A total of 25 papers were included reporting on 51 individuals, of whom 17 had familiar inheritance of their mutation. Patients included 27 males and 24 females, and 8 fatal cases were observed. A total of 10 mutation sites have been reported in the STING gene, with p.V155M being the most prevalent. We identified SAVI as an early-onset disease with a median age of onset of 3 months after birth. Skin lesions were the most common symptoms of SAVI, found in 94.1% (48/51) of patients, while 76% (19/25) who had undergone a skin biopsy showed vasculopathy. Involvement of the lungs was identified in 68.6% (35/51) of patients, while only 22.2% (4/18) who had undergone a lung biopsy showed vasculopathy. Of 20 patients, 19 had increased immunoglobulin, mainly IgG. Furthermore, 45.1% (23/51) of patients had a positive low titer or were transiently positive for antinuclear antibodies. Of the 18 patients treated with JAK inhibitors, 6 relapsed and 2 died of acute respiratory failure caused by viral infection. Patients with p.N154S mutation had an earlier disease onset (p = 0.002) and more severe skin lesions (p < 0.001) than those patients with p.V155M mutation.Conclusion: SAVI is an early-onset disease accompanied by skin and lung lesions whose clinical presentation varies among patients with different genotypes. Therapeutic effects of JAK inhibitors are unsatisfactory.

scholarly journals Fibromuscular dysplasia with recurrence after “long-term” following percutaneous transcatheter renal angioplasty: two case reports with a review of 26 patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Shuntaro Oribe ◽  
Takafumi Toyohara ◽  
Eikan Mishima ◽  
Takehiro Suzuki ◽  
Koichi Kikuchi ◽  
...  
Keyword(s):  
Fibromuscular Dysplasia ◽  
Age Of Onset ◽  
Case Reports ◽  
Case Presentation ◽  
Renal Angioplasty ◽  
Long Term Follow Up ◽  
Percutaneous Transluminal Renal Angioplasty ◽  
The Difference

Abstract Background Fibromuscular dysplasia (FMD) often causes renal artery stenosis with renovascular hypertension. Recent clinical outcomes encourage percutaneous transluminal renal angioplasty (PTRA) to treat FMD; however, the necessary follow-up period remains unclear. Moreover, previous studies have not revealed the difference in the period until recurrence between two major types of FMD—multifocal and focal. Case presentation We describe two patients with multifocal FMD who developed hypertension during their teenage years and had recurrence of FMD > 10 years after PTRA. We further examined the types of FMD and age of onset in 26 patients who underwent PTRA. The period until recurrence of multifocal FMD was longer than that of focal FMD. Moreover, patients with early-onset multifocal FMD are likely to have a delayed recurrence after PTRA compared to other types. Conclusions Our report suggests that patients with multifocal FMD, especially those with onset at an early age, may need long-term follow-up for at least ≥ 10 years.

scholarly journals Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

2021 ◽  
Vol 8 (4) ◽  
pp. 956-963
Author(s):  
Romina Romaniello ◽  
Andrea Citterio ◽  
Elena Panzeri ◽  
Filippo Arrigoni ◽  
Marta De Rinaldis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Intragenic Deletion

Nongenetic Factors as Modifiers of the Age of Onset of Familial Alzheimer's Disease

2003 ◽  
Vol 15 (4) ◽  
pp. 337-349 ◽  
Author(s):  
Silvia Mejía ◽  
Margarita Giraldo ◽  
David Pineda ◽  
Alfredo Ardila ◽  
Francisco Lopera
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Logistic Regression ◽  
Early Onset ◽  
Age Of Onset ◽  
Univariate Analysis ◽  
Personal Factors ◽  
Familial Alzheimer’S Disease ◽  
Familial Alzheimer's Disease ◽  
High Level

Objective: The purpose of this research was to identify environmental and personal factors that could be related to the variability in the age of onset of familial Alzheimer's disease (FAD) (36–62 years). Methods: A sample was taken of 49 subjects with FAD and with the mutation E280A in the presenilin-1 gene on chromosome 14; the sample was divided into two subgroups: 27 individuals with age of onset of the disease between 36 and 46 years (early onset) and 22 individuals whose disease began between 47 and 62 years (late onset). Information on environmental and personal factors was collected by means of a questionnaire answered by the patients if their clinical condition allowed it, or by their relatives; such information was organized in a categorical way. Comparisons between the two groups for each categorical variable were done by means of the chi-square test. Noncollinear variables that showed statistical significance were included as independent variables in a logistic regression analysis to predict their association with early onset of the disease. Results: Only 5 of the 140 studied variables were different between the two groups in univariate analysis: education, surgical history, type of stressful event, depression, and affective losses. The logistic regression model was constituted by education, depression, and affective losses. High-level education had approximately 15 times more probability of association with an early onset of the disease; both the history of affective losses and depressive symptoms had 4 times more probability of a similar association. Conclusions: The association of high-level education and early onset of the disease could be related to an earlier detection of symptoms, in turn determined by greater intellectual and environmental demands. The occurrence of depression and affective losses has been considered a prodromic manifestation of the disease. Our findings are evidence of high clinical heterogeneity even in a genetically homogeneous group.

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