RESUMO
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and dyslipidemia by citrin deficiency (FTTDCD), and adult-onset type II citrullinemia (CTLN2). As a nationwide study to investigate the clinical manifestations, medical therapy, and long-term outcome in Japanese patients with citrin deficiency, we collected clinical data of 222 patients diagnosed and/or treated at various different institutions between January 2000 and December 2019. In the entire cohort, 218 patients were alive while 4 patients (1 FTTDCD and 3 CTLN2) had died. All patients <20 years were alive. Patients with citrin deficiency had an increased risk for low weight and length at birth, and CTLN2 patients had an increased risk for growth impairment during adolescence. Liver transplantation has been performed in only 4 patients (1 NICCD, 3 CTLN2) with a good response thereafter. This study reports the diagnosis and clinical course in a large cohort of patients with citrin deficiency and suggests that early intervention including a low carbohydrate diet and MCT supplementation can be associated with improved clinical course and long-term outcome.
Assuntos
Colestase Intra-Hepática , Citrulinemia , Dislipidemias , Transportadores de Ânions Orgânicos , Adolescente , Adulto , Colestase Intra-Hepática/etiologia , Colestase Intra-Hepática/terapia , Citrulinemia/diagnóstico , Citrulinemia/genética , Citrulinemia/terapia , Insuficiência de Crescimento , Humanos , Recém-Nascido , Japão , Proteínas de Transporte da Membrana Mitocondrial/genética , MutaçãoRESUMO
Varicella zoster virus (VZV) is the etiologic agent of varicella, and it remains common among children in Japan due to low vaccination rates. It can cause a variety of serious and life-threatening complications. Generally, the most frequent complication of varicella in healthy children is bacterial superinfection, but empyema after VZV infection is a rare condition. This case report describes a previously healthy 21-month-old boy who attended nursery school with a recent varicella and group A ß-hemolytic streptococcus (GABHS) pharyngitis outbreak and who presented with a 7 day history of vesicular rash along with progressive fever. Due to continued mild cough and prolonged fever, however, chest radiography was done, which showed a right pleural effusion. Further computed tomography showed a right pulmonary empyema, and purulent material was drained and eventually grew GABHS. This report hereby describes the development of pleural empyema caused by GABHS after VZV infection in a serologically immunocompetent patient.
Assuntos
Varicela/complicações , Empiema Pleural/etiologia , Infecções Estreptocócicas/etiologia , Humanos , Imunocompetência , Lactente , MasculinoRESUMO
Pasteurella multocida, often found as part of the human oral flora and in finger/toenails, also exists in many animals, especially cats, dogs, and pigs. Although rare, pasteurella infection in neonates can cause serious systemic disease, such as meningitis. In this article, a 23-day-old girl presented with decreased appetite and irritability for >2 days. Eighteen days previously her pet cat had jumped onto the left side of her head while she was sleeping. On laboratory data C-reactive protein was high, and on cerebrospinal fluid (CSF) analysis leukocyte count was extremely high, with low glucose and high protein. P. multocida grew out of the blood and CSF cultures, and she was successfully treated with antibiotics for 3 weeks. Although pasteurellosis rarely occurs, it can sometimes lead to life-threatening situations, so parents should exercise caution when having pets around their children.
Assuntos
Bacteriemia/microbiologia , Meningites Bacterianas/microbiologia , Infecções por Pasteurella/etiologia , Pasteurella multocida , Animais , Bacteriemia/diagnóstico , Bacteriemia/terapia , Gatos , Feminino , Humanos , Recém-Nascido , Meningites Bacterianas/diagnóstico , Meningites Bacterianas/terapia , Infecções por Pasteurella/diagnóstico , Infecções por Pasteurella/terapiaRESUMO
When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read sequencing revealed that balanced translocation disrupted the KMT2C gene, the haploinsufficiency of which leads to Kleefstra syndrome 2 characterized by delayed psychomotor development, variable intellectual disability and mild dysmorphism. Nanopore long-read sequencing was shown to be useful in elucidating the exact genetic etiology of patients with nonspecific clinical findings.
Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Humanos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Cromossomos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Fenótipo , Translocação Genética , Pré-EscolarRESUMO
Hypertension is a rare complication of Leigh Syndrome (LS), but prognosis of patients with hypertension is poor and its presence is indicative of the terminal stage of the disease. Herein, we report a four-year-old girl case diagnosed with LS at 15 months of age who subsequently developed severe hypertension and respiratory failure. Physical examination and laboratory findings did not indicate a secondary cause of hypertension. Her respiratory failure was treated with non-invasive ventilation and hypertension controlled with enalapril, furosemide and spironolactone. To our knowledge, this is the first case of a patient with LS recovering from severe hypertension.
RESUMO
The association between Down syndrome and congenital portosystemic shunts, most commonly caused by patent ductus venosus, remains relatively unknown. The authors present a girl with Down syndrome with patent ductus venosus, pancreaticobiliary maljunction and paucity of interlobular bile ducts, presenting with neonatal cholestasis and transient abnormal myeloproliferative disorder. To the best of authors' knowledge, no report of the concurrent presence of the above in Down syndrome has been published.
Assuntos
Sistema Biliar , Anormalidades do Sistema Digestório , Síndrome de Down/complicações , Reação Leucemoide/complicações , Fígado , Pâncreas , Veia Porta/anormalidades , Malformações Vasculares , Sistema Biliar/anormalidades , Sistema Biliar/diagnóstico por imagem , Colangiografia/métodos , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/cirurgia , Gerenciamento Clínico , Síndrome de Down/diagnóstico , Feminino , Humanos , Recém-Nascido , Reação Leucemoide/diagnóstico , Fígado/anormalidades , Fígado/diagnóstico por imagem , Fígado/patologia , Pâncreas/anormalidades , Pâncreas/diagnóstico por imagem , Veia Porta/fisiopatologia , Ultrassonografia/métodos , Malformações Vasculares/diagnóstico , Malformações Vasculares/fisiopatologiaAssuntos
Adenosina Trifosfatases/genética , Cálcio/metabolismo , Colestase Intra-Hepática/genética , Resistência a Medicamentos/genética , Homeostase/fisiologia , Hormônio Paratireóideo/fisiologia , Adulto , Osso e Ossos/metabolismo , Colestase Intra-Hepática/metabolismo , AMP Cíclico/sangue , Citocinas/sangue , Feminino , Humanos , Hipocalcemia/sangue , Hipocalcemia/genética , Indóis/sangue , Masculino , Mutação , Naftiridinas/sangue , Osteocalcina/sangue , Hormônio Paratireóideo/sangue , Fragmentos de Peptídeos/sangue , Pró-Colágeno/sangueAssuntos
Úlcera Duodenal/imunologia , Úlcera Duodenal/microbiologia , Mucosa Gástrica/imunologia , Gastrite/imunologia , Gastrite/microbiologia , Infecções por Helicobacter/imunologia , Helicobacter pylori , Adolescente , Adulto , Criança , Citocinas/análise , Úlcera Duodenal/patologia , Feminino , Mucosa Gástrica/química , Mucosa Gástrica/patologia , Gastrite/patologia , Infecções por Helicobacter/microbiologia , Infecções por Helicobacter/patologia , Humanos , Masculino , Glicoproteínas de Membrana/análise , Receptores de Superfície Celular/análise , Receptores Toll-LikeRESUMO
OBJECTIVES: To evaluate the risk for atherosclerosis in Alagille syndrome (AGS) and progressive familial intrahepatic cholestasis (PFIC) on the basis of lipoprotein metabolism and by ultrasonography. STUDY DESIGN: Five patients with AGS and 5 with PFIC, ages 3 to 4 years, were enrolled. Intimal-medial thickness and wall stiffness of the common carotid artery were examined by ultrasonography. Serum levels of lipids and lipoproteins were determined. Further, the chemical composition of LDL and its ability to transform macrophages into foam cells were determined. RESULTS: Intimal-medial thickness and wall stiffness were increased in patients with PFIC but not in patients with AGS. Total cholesterol, LDL cholesterol, HDL cholesterol, and lipoprotein X were remarkably increased in patients with AGS, whereas in patients with PFIC, an increase in triglyceride and a decrease in HDL cholesterol were the prominent findings. However, despite the normal LDL cholesterol level, oxidized LDL level was strikingly high in patients with PFIC. LDLs from patients with PFIC had high TG contents and exhibited high abilities to transform macrophages into foam cells. CONCLUSIONS: These findings suggest that patients with PFIC are at high risk for cardiovascular disorders involving atherosclerosis.