To enhance the understanding of familial erythrocytosis type 2 (ECYT2) resulting from compound heterozygous mutations in the VHL gene. We conducted a retrospective analysis of the case data from a patient with ECYT2 to investigate its pathogenesis, clinical features, diagnosis and treatment options, as well as prognosis, while also reviewing the relevant literature. A 31-year-old man was admitted to the hospital due to facial and hand flushing that had persisted for 29 years. Whole exome sequencing revealed compound heterozygous mutations in VHL p.P81L and p.N90T. Both of his parents were found to carry only one of these heterozygous mutations, yet they exhibited normal phenotypes. Based on the patient's hematological tests, a clear diagnosis of ECYT2 was established. Following treatment with erythrocytapheresis and daily administration of aspirin at a dosage of 100 mg, the patient experienced relief from dizziness and headaches associated with blood hyperviscosity, without any thrombotic or bleeding complications during this period. ECYT2 is a rare group of autosomal recessive genetic disorders. This case of ECYT2, resulting from compound heterozygous mutations in the VHL gene, represents the first report in China. Clinically, it is characterized by elevated red cell mass, normal or increased serum erythropoietin levels, and normal hemoglobin oxygen affinity levels. These factors contribute to thrombotic and bleeding complications that can lead to early mortality.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn121090-20241011-00390 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Two New Kindreds with Complete Factor D Deficiency.
Eur J Immunol
March 2025
Department of Immunology, Assistance Publique- Hôpitaux de Paris (AP-HP), Georges Pompidou European Hospital, Paris, France.
Inborn deficiencies of the alternative pathway (AP) of the complement system have been associated with life-threatening infections, mainly by encapsulated bacteria. Complete factor D (FD) deficiencies have been reported in only seven families in the literature. We report two new cases of biochemically and genetically confirmed complete FD deficiency, including the first in a Down syndrome patient.
View Article and Find Full Text PDFCase Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
Front Endocrinol (Lausanne)
March 2025
Department of Endocrinology, Central Hospital of Dalian University of Technology, Dalian, China.
Introduction: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder caused by an inactivating mutation in the gene, while Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder resulting from a pathogenic mutation in the gene. Both genetic disorders are relatively rare. This report presents a patient with both FHH and GS, exhibiting unique clinical and genetic complexities.
View Article and Find Full Text PDFNewborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.
Ital J Pediatr
March 2025
Hefei Women and Children Health Center, Hefei, 230092, China.
Background: Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in the SLC22A5 gene, with its prevalence and the spectrum of mutations in SLC22A5 varying across races and regions. This study aimed to analyze the clinical and genetic characteristics of PCD patients, including newborns and their mothers, identified by newborn screening (NBS) in Hefei, China.
Methods: The dried blood spot samples from newborns were analyzed using tandem mass spectrometry (MS/MS) from July 2015 to December 2024.
Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.
Breast Cancer Res
March 2025
Inserm, U1331, Institut Curie, PSL University, Mines ParisTech, Paris, France.
Background: The ataxia-telangiectasia mutated (ATM) kinase phosphorylates and activates several downstream targets that are essential for DNA damage repair, cell cycle inhibition and apoptosis. Germline biallelic inactivation of the ATM gene causes ataxia-telangiectasia (A-T), and heterozygous pathogenic variant (PV) carriers are at increased risk of cancer, notably breast cancer. This study aimed to investigate whether DNA methylation profiling can be useful as a biomarker to identify tumors arising in ATM PV carriers, which may help for the management and optimal tailoring of therapies of these patients.
View Article and Find Full Text PDFHematological ABP: Interest of New Generation Sequencing Methods (NGS) to Study Suspicious Fluctuations in Erythropoiesis.
Drug Test Anal
March 2025
Department of Pharmacology and Toxicology, Inserm U-1018, CESP, Teams MOODS, Paris-Saclay University, Garches, France.
We present a case report of an adverse analytical finding (AAF) with suspected doping in an athlete following consumption of a supplement contaminated with Roxadustat, an oral inhibitor of hypoxia-inducible factor prolyl hydroxylase (HIP-PH), which increases erythropoietin production under normoxic conditions. Simultaneously, the athlete biological passport (ABP) profile was reviewed by experts of the World Anti-Doping Agency (WADA) ABP review panel and considered to be atypical and suspect of blood doping. A particular genetic testing was performed, which determined that this athlete had various reasons for fluctuations in her hematological parameters, such as the C677T and 1298C MTHFR mutations leading to chronic folate deficiency which can participate in the development of multiple hormonal and metabolic disturbances, heterozygous missense variant EPAS1 c.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!