ABSTRACT
We report the case of a neonate with a new, previously undescribed, glucose-6-phosphate dehydrogenase (G6PD) gene mutation, which was revealed by severe cholestasis, hyperbilirubinemia, and transient liver dysfunction. The severity of the clinical phenotype with ongoing chronic hemolytic anemia suggests that this mutation belongs to class 1 G6PD deficiency. The hemizygous mutation «c.675G>c; p.Trp225Cys¼ was detected by genomic sequencing. Since severe G6PD deficiency can be revealed by cholestasis, it is important to check G6PD enzyme activity when faced with a case of liver dysfunction in the neonatal period.
Subject(s)
Cholestasis/etiology , Glucosephosphate Dehydrogenase Deficiency/diagnosis , Glucosephosphate Dehydrogenase/genetics , Hepatic Insufficiency/etiology , Mutation , Cholestasis/diagnosis , Genetic Markers , Glucosephosphate Dehydrogenase Deficiency/complications , Glucosephosphate Dehydrogenase Deficiency/genetics , Hepatic Insufficiency/diagnosis , Humans , Infant, Newborn , MaleSubject(s)
Blood Component Removal/methods , Graft vs Host Disease/drug therapy , Photochemotherapy/methods , Adolescent , Allografts , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Prospective Studies , Steroids/therapeutic use , Time Factors , Treatment Outcome , Ultraviolet Therapy/methodsABSTRACT
Kikuchi-Fujimoto's disease or histiocytic necrotizing lymphadenitis is a benign disease predominantly occurring in young women which etiology remains unknown and revealed by cervical lymphadenitis and/or prolonged fever. It has rarely been reported in children. Among the 5 cases reported, 1 child had a systemic localization. The diagnosis is based on the histological examination of a lymph node biopsy. The disease course was spontaneously favourable in 2 cases; a corticotherapy was needed in 3 children. A pathogen agent was found in 2 patients. Kikuchi's disease can reveal or evolve into autoimmune disease particularly lupus, thus a long clinical and biological follow-up is necessary.
Subject(s)
Histiocytic Necrotizing Lymphadenitis/diagnosis , Adolescent , Adrenal Cortex Hormones/therapeutic use , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Anti-Bacterial Agents/therapeutic use , Biopsy , Child , Female , Histiocytic Necrotizing Lymphadenitis/drug therapy , Humans , Lymph Nodes/pathology , MaleABSTRACT
In this study we have identified frequent human leukocyte antigen (HLA)-A, -B, -C,-DRB1, and -DQB1 alleles, frequent HLA-B/C, HLA-DRB1/DQB1 two-allele associations, and the most common HLA-A/B/C/DRB1/DQB1 five-locus haplotypes in a population residing in the Paris, France, area. The study was carried out in 356 families of children awaiting hematopoietic stem-cell transplantation (HSCT), with the selection criterion that haplotypes could be assigned with certainty to both the patient and at least one parent. Parental haplotypes were HLA-A, -B serologically typed, and HLA-C, -DRB1, -DQB1 broadly typed by polymerase chain reaction-sequence-specific oligonucleotide probe. The alleles of the most frequent haplotypes were subsequently defined at a high-resolution level by polymerase chain reaction-sequence-specific primer. The results on the distribution of common alleles and common allele associations demonstrated similarities with the previously published data in Caucasian populations, as expected from the geographic origin of the studied population. More importantly, this study provides the largest listing of common B/C and DRB1/DQB1 associations and of common five-allele haplotypes defined with certainty in a Caucasian population to date. These results can be used to help estimate the likelihood of finding a suitable donor in unrelated HSCT and to delineate search strategies for potential donors.
