RESUMO
Protein-losing enteropathy (PLE) is a rare and life-threatening complication that occurs after the Fontan procedure. We herein report the case of an 11-year-old Japanese boy who developed PLE six times after undergoing the Fontan procedure. High-dose spironolactone therapy has been effective for 2 years. His high level of serum aldosterone decreased to a nearly normal range and spironolactone may have a diuretic and anti-inflammatory potential.
Assuntos
Anti-Inflamatórios/uso terapêutico , Diuréticos/uso terapêutico , Técnica de Fontan/efeitos adversos , Enteropatias Perdedoras de Proteínas/tratamento farmacológico , Enteropatias Perdedoras de Proteínas/etiologia , Espironolactona/uso terapêutico , Criança , Humanos , Japão , MasculinoRESUMO
MYH9 disorder is a rare autosomal dominant disease characterized by congenital thrombocytopenia with giant platelets and leukocyte inclusion bodies and is often associated with Alport-like symptoms, such as glomerulonephritis, sensorineural hearing loss, and cataracts. We report a Japanese pedigree wherein the MYH9 p.R1165C mutation was present in over 4 generations. Three individuals were misdiagnosed as Bernard-Soulier syndrome carriers. Among the 12 patients with abnormal hematological features, the proband's mother, aunt, and grandaunt presented with sensorineural hearing impairment, and the mother presented with presenile cataract, and nephritis. This case report confirms the previously established genotype-phenotype correlations of the MYH9 disorder that p.R1165C is associated with variable expression of nonhematological manifestations. Careful detection of leukocyte inclusion bodies in peripheral blood smears is necessary to prevent misdiagnosis.
Assuntos
Catarata/genética , Perda Auditiva Neurossensorial/genética , Proteínas Motores Moleculares/genética , Mutação/genética , Cadeias Pesadas de Miosina/genética , Trombocitopenia/congênito , Trombocitopenia/genética , Adolescente , Adulto , Catarata/patologia , Criança , Feminino , Estudos de Associação Genética , Genótipo , Perda Auditiva Neurossensorial/patologia , Heterozigoto , Humanos , Masculino , Linhagem , Fenótipo , Prognóstico , Síndrome , Trombocitopenia/patologia , Adulto JovemRESUMO
BACKGROUND: Retinopathy of prematurity (ROP) is a major cause of blindness in children. Because the use of oxygen is a known risk factor for development of ROP, supplemental oxygen is used carefully. However, it does not necessarily reduce the morbidity of ROP-induced blindness. The aim of the present study was to identify the possible risk factors for progression to retinal detachment, a most relevant cause of visual impairment, in extremely low-birthweight infants (ELBWI). METHODS: The medical records of the 42 ELBWI who were admitted to the neonatal intensive care unit in Asahikawa Kosei Hospital from April 1999 to March 2004 were retrospectively reviewed. Seven infants (16.7% of the ELBWI) developed retinal detachment and two of them became blind. Perinatal and postnatal variables in these infants with retinal detachment were compared with those in infants without retinal detachment. RESULTS: A striking difference in the daily intake of human milk was found between the infants with or without retinal detachment when their gestational ages at birth were matched. The infants without retinal detachment were fed more human milk (67-83% volume of total nutritional intake) as compared to those with retinal detachment (24-38% volume of total nutritional intake) at a specific postnatal period, 5-7 weeks postnatal age. CONCLUSIONS: Human milk may contain some beneficial factors to reduce the severity of ROP. Identifying these factors in human milk may contribute to development of a strategy to rescue premature infants from blindness.
Assuntos
Recém-Nascido de Peso Extremamente Baixo ao Nascer , Leite Humano , Descolamento Retiniano/prevenção & controle , Retinopatia da Prematuridade/prevenção & controle , Progressão da Doença , Humanos , Recém-Nascido , Estudos RetrospectivosRESUMO
BACKGROUND: Our data in rats suggest that an elevated amniotic fluid erythropoietin (EPO) level at birth indicates antepartum fetal hypoxia. However, the short gestation period in rats does not permit a direct comparison of our data with humans. METHODS: We conducted a retrospective study of the relationship between EPO levels at birth and abnormal fetal heart rate (FHR) records in 113 infants. RESULTS: Among the cesarean section group, the cord serum and amniotic fluid EPO levels in the infants with antepartum abnormal FHR records were significantly higher than those in the control infants. Among the vaginal delivery group, the cord serum EPO levels in the infants with intrapartum abnormal FHR records was significantly higher than that in the control infants. The EPO levels in either cord serum and amniotic fluid discriminated between infants with antepartum abnormal FHR records. The control infants had a sensitivity of 83% and a specificity of 96%. Six of the seven infants with abnormal EPO levels in both cord serum and amniotic fluid had symptoms of prolonged fetal hypoxia. Five infants with abnormal EPO levels in only cord serum had symptoms of acute fetal hypoxia before birth. Four of the 14 infants with abnormal EPO levels at birth had poor outcomes in the neonatal period. CONCLUSIONS: We concluded that EPO levels in both cord serum and amniotic fluid at birth are valuable for determining the timing of fetal hypoxia and may predict the outcome in the neonatal period.