Dataset Information

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients.

ABSTRACT: Background: Pearson's syndrome (PS) is a rare multi-system disorder caused by mitochondrial DNA deletion. Most PS cases in the literature are individual reports, and there is a lack of systematic analysis of clinical features and gene mutations in large samples. Objective: To report a case of PS and summarize the clinical features and genetic characteristics of PS by reviewing the literature. Methods: We reported a case of PS in a boy with severe anemia and multi-system disorder. Genetic etiology was identified by mitochondrial DNA sequencing and whole-exon sequencing. Clinical features and gene mutations were summarized by literature review. Results: The patient had major clinical manifestations with recurrent anemia and multiple organ failure after infection. Mitochondrial DNA sequencing revealed a de novo heteroplasmic deletion of 3.063 kb (nt 6,224-9,287) with 75% heteroplasmy in peripheral blood. A total of 139 PS cases were retrieved after a literature search. The most common initial symptom was refractory anemia requiring repeated blood transfusion (86.2%), digestive system symptoms (26.9%), and failure to thrive (15.4%). During the course of disease, the observed symptoms were bone marrow failure (100%), metabolic disorders (61.87%) and gastrointestinal symptoms (61.87%), failure to thrive (48.9%), renal disorders (42.45%), and pancreatic exocrine insufficiency (39.6%). The mean heteroplasmy of mitochondrial DNA mutation in peripheral blood in deaths (76.29 ± 11.86%, n = 29) was higher than that in survivals (59.92 ± 23.87%, n = 26, p < 0.01). Among the patients with the 4.977 kb deletion, the heteroplasmy in peripheral blood in deaths (79.64 ± 9.71%, n = 11) was higher than that in survivals (56.67 ± 27.65%, n = 9, p < 0.05). Conclusion: PS can affect multiple systems, and mitochondrial DNA sequencing should be performed early. The heteroplasmy in peripheral blood is related to prognosis.

SUBMITTER: Ying Y

PROVIDER: S-EPMC9168460 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients.

Ying Yanqin Y Liang Yan Y Luo Xiaoping X Wei Ming M

Frontiers in genetics 20220523

Background: Pearson's syndrome (PS) is a rare multi-system disorder caused by mitochondrial DNA deletion. Most PS cases in the literature are individual reports, and there is a lack of systematic analysis of clinical features and gene mutations in large samples. Objective: To report a case of PS and summarize the clinical features and genetic characteristics of PS by reviewing the literature. Methods: We reported a case of PS in a boy with severe anemia and multi-system diso ...[more]

PMID: 35677556

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Project description:BackgroundFinasteride is widely used in the treatment of benign prostatic hyperplasia (BPH) and androgenic alopecia (AGA). Post-finasteride syndrome (PFS) is a spectrum of persistent symptoms reported by some patients after treatment with finasteride for androgenetic alopecia. These patients show many abnormal clinical manifestations, including psychological disorders (depression and anxiety, among others) and sexual dysfunction. However, there is insufficient research on the persistent severe side effects in young male patients with PFS, and the underlying mechanism of PFS has not been fully elucidated. Growing evidence highlights the relevance of genetic variants and their associated responses to drugs. Therefore, we performed next-generation sequencing (NGS) in our study of PFS.Case descriptionHere, we enrolled three young male patients aged 20-30 years with a PFS duration of 1-3 years and analyzed their clinical and genetic information. PFS patients suffered from erectile dysfunction (ED), anxiety, feelings of isolation, and insomnia. Variants in genes, including CA8, VSIG10L2, HLA-B, KRT38 and HLA-DRB1, were detected, and these genes represent potential risk genes.ConclusionsPFS, commonly observed in young men, has certain clinical manifestations, mainly psychological disorders and abnormal sexual functions. Young men who may take finasteride therapy for hair loss should receive consultation services and be informed of possible future harms. Psychological screening is an important method to reduce the occurrence of PFS. At present, the underlying mechanism of PFS is not very clear, and more research is needed to improve the understanding of the disease. Some genes are abnormal in PFS patients, suggesting that clinical and genetic evaluation might be needed before the prescription of 5α-reductase inhibitors. With research progress, genetic screening may be a promising way to avoid the harmful effects of finasteride in people with related genetic risk factors.

Dataset Information

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients.

Publications

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients.

Similar Datasets

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