One case report of autoantibody-associated congenital heart block / 临床儿科杂志

ObjectiveTo explore the pathogenesis, clinical manifestations, diagnosis, and treatment of autoanti-body-associated congenital heart block.MethodsThe clinical data of one child with autoantibody-associated congenital heart block was retrospectively analyzed.ResultsIn 24 week gestation, fetal bradycardia had been found by routine fetal echocar-diography. After birth, the anti-SSA/Ro antibodies and anti-SSB/La antibodies were positive in both infant and her mother. The diagnosis of autoantibody-associated congenital heart block was conifrmed. Intravenous immunoglobulin at 1 g/kg was adminis-trated. At 6 months follow-up, the electrocardiogram suggested type I second degree atrioventricular block.ConclusionIn the fetus or neonates found to have bradycardia and excluded the cardiac structural abnormalities, the autoimmune antibody should been tested and early intervention should been promoted.

A Case of Neonatal Lupus Erythematosus Showing Transient Anemia and Hepatitis

Neonatal lupus erythematosus (NLE) is an autoimmune disease that is associated with transplacental passage of maternal autoantibodies that are reactive to SSA/Ro and SSB/La antigens. Cardiac involvement, hematologic abnormality and hepatic disease may occur in the infants suffering with NLE, in addition to the characteristic skin lesions. We report here on a case of NLE in a 4-week-old female infant who was born to an asymptomatic mother, and the baby displayed the characteristic clinical and histological features of cutaneous NLE with transient anemia and hepatitis. Both the infant and mother were positive for anti-SSA/Ro and anti-SSB/La. There have been 18 case reports of NLE in the Korean literature, including 7 case reports in the dermatological field. We describe herein another case of NLE that showed transient anemia and hepatitis, and we also review the case reports of NLE in the Korean literature.

Capacidad de las células Hep-2, Hep-2000® Inmunofluorescencia y Hep-2000® Colorzyme, en la determinación de ANAS y SSA/Ro en la evaluación inicial en pacientes con Enfermedad del Tejido Conectivo no Diferenciada / Capacity of cells Hep-2, Hep-2000® Immunofluorescence and Hep-2000® Colorzyme, in the determination of ANAS and SSA/Ro, in the initial evaluation of patients with Undifferentiated Connective Tissue Disease

Introducción: la presencia de anticuerpos antinucleares (ANAS) ha sido tradicionalmente asociada a enfermedades del tejido conectivo; su determinación se constituye en una importante herramienta en el diagnóstico de estas entidades. Para su evaluación, se han utilizado métodos de inmunofluoresencia (IFI) que emplean como sustrato las células Hep-2. En los últimos años, se han generado nuevos sustratos celulares a partir de la manipulación genética de las iniciales denominados Hep-2000®. Estas permiten la identificación del antígeno Ro de manera simultánea. La incorporación reciente de métodos enzimáticos para la lectura de la prueba, ha generado una nueva técnica llamada Colorzyme que permite el uso del microscopio de luz, constituyéndose en una alternativa económica y funcional en comparación con la IFI convencional. Objetivo: el presente estudio pretende establecer la capacidad para detectar ANAS en los sustratos: Hep-2 y Hep-2000® por las técnicas de IFI y Colorzyme, en un grupo de pacientes con Enfermedad del Tejido Conectivo no Diferenciada (ETCND). Adicionalmente comparó la detección del antígeno Ro en los sustratos Hep-2000® con los resultados obtenidos por la técnica de ENAS ELISA tradicional. Materiales y métodos: se analizaron 26 pacientes con ETCND a quienes se les determinó ANAS por las técnicas: Hep-2 IFI; Hep-2000® IFI; Hep-2000 Colorzyme y ENAS por ELISA Screening (con especificidad para los autoantígenos Sm, RNP, SS-A/Ro, SS-B/La, Scl-70 y Jo-1). Resultados: los resultados encontrados por las técnicas revelan un mayor rendimiento diagnóstico (ANAS positivos) en las células Hep-2000®: 23 (88%) por IFI y 21 (81%) Colorzyme, comparadas con 20 (76%) del sustrato Hep-2 IFI. Todos los patrones “clásicos” IFI estuvieron representados en la técnica de Hep-2 IFI; en la técnica de Hep-2000® IFI no se observó el patrón homogéneo, por Colorzyme no se observaron los patrones nucleolar ni el citoplasmático. En todas las técnicas la forma predominante de presentación fue el patrón moteado fino: 50% Colorzyme, 42,9 % para Hep-2000® IFI y 34,6% para Hep-2 IFI. En general se obtuvieron buenas correlaciones en los resultados entre las técnicas Hep-2000® IFI y la enzimática (r=0,74 p<0,000) con una concordancia 0,71 (Cohen K, p<0,000), mas no así con Hep-2 que fue de 0,21 (p<0,03). Las correlaciones entre los patrones de IFI (r=0,6 p<0,000) y las diluciones (r=0,75 p<0,000) fueron mejores entre los sustratos Hep-2000®, comparadas con las células Hep-2 (r=0,5 p<0,003). Para establecer la capacidad de identificación del autoantígeno Ro de las técnicas Hep-2000®, se compararon los resultados obtenidos con los de la técnica específica de ELISA para SSA-Ro. Las células Hep-2000® mostraron una sensibilidad del 66% por IFI y del 33% Colorzyme. Conclusiones: la utilización de células Hep-2 sigue siendo una buena alternativa para la determinación de ANAS. Sin embargo, las células Hep- 2000® pueden considerarse un sustrato útil y confiable en nuestro medio, tanto por color como IFI. La técnica por color facilita su realización al abolir el uso de IFI, recurso tecnológico escaso en muchas instituciones. Los resultados negativos para Ro deben ser interpretados con cautela pacientes con ETCND, en algunos de estos casos es posible se requiera de la confirmación por otros métodos.

Introduction: The presence of antinuclear antibodies (ANAS) has been traditionally associated to conective tissue diseases. and their determination is an important tool in the diagnose of these entities. In the last years the Cells Hep-2 has been used .in the Inmunofluoresencia technique (IFI),. New cellular sustratos has been generated by genetic manipulation, denominated Hep-2000®. These allow the identification of the antigen Ro in the same procedure. The recent incorporation of enzymatic methods for the reading of the test, has generated a new technique called Colorzyme, This allows the use of the microscope of light that become the procedure in an economical and functional alternative in comparison with the conventional IFI. Objective: The present study pretend to establish the capacity of detection of ANAS in sustratos: Hep-2 and Hep-2000® for IFI and Colorzyme, in a group of patients with No Differentiated Conective Tissue Disease (NDCTD). Additionally compares the detection of the antigen Ro in Hep-2000® cells and confront the results obtained by the ENAS-ELISA technique . Materials and methods: The presence of ANAS were analyzed in the serum of 26 patients with NDCTD by the techniques: Hep-2 IFI; Hep-2000® IFI; Hep-2000 Colorzyme® and ENAS for ELISA Screening (with specificity for the auto antigens Sm, RNP, SS-A/Ro, SS-B/La, Scl-70 and Jo-1). Results: Hep-2000®: demonstrated a better capacity in order to found ANAS: 23 (88%) for IFI and 21 (81%) for Colorzyme, compared with 20 (76%) of Hep-2 IFI. All the patterns «classic¼ IFI was represented in the Hep-2 cells IFI; Hep-2000 IFI the homogeneous pattern was not observed. In Colozyme tecnique the nucleolar and citoplasmic patron was not observed. In all the techniques the predominant form of presentation was the speckle-fine pattern: 50% Colorzyme, 42.9% for Hep-2000® IFI and 34.6% for Hep-2 IFI Good correlations were obtained in the results among the technique Hep-2000® IFI and the Colorzyme (r=0.74 p <0.000) but not in the Hep-2 IFI substrate: 0.21 (p <0.03). The correlations among the patterns of IFI (r=0.6 p <0.000) and the dilutions (r=0.75 p <0.000) were better among the Hep-2000® substrates, compared with the Hep-2 cells (r=0.5

Outcome of pregnant mothers with systemic lupus erythematosus (focusing on congenital heart block) / 소아과

PURPOSE: Neonatal lupus is characterized by congenital complete heart block(CCHB), cutaneous rash, and laboratory abnormalities in infants born to mothers with systemic lupus erythematosus(SLE). This study aims to examine the incidence of CCHB and clinical outcome in neonates born to mothers with SLE. METHODS: The study group consisted of 49 neonates, born from 57 pregnancies of 55 women with SLE, diagnosed at Hanyang University Hospital for the period between January 1997 and January 2005. Clinical and laboratory data were retrospectively identified from medical record. RESULTS: There were 5(8.8 percent) spontaneous abortions and one(1.8 percent) still births among 57 pregnancies of 55 mothers. Of 49 live births, 15(26.3 percent) were premature and eight(12.3 percent) were small for their gestational age. There was one(1.8 percent) CCHB suspected during pregnancy on fetal echocardiograpy in a fetus of mother with systemic lupus erythematosus and the fetus was not born by artificial abortion because of mother. There was no CCHB among EKG findings of 49 newborns. Laboratory testing showed hematologic abnormalities among 25.6 percent(10/39) of the babies. 5.1 percent(2/39) and 7.7 percent(3/39) of them were diagnosed as neutropenia, and thrombocytopenia was seen respectively. Anti-SSA(Ro) and antiphospholipid antibodies were predictive factors for prematurity(P=0.003, P=0.049). Anticardiolipin antibodies were predictive factors for ventilatory care(P=0.018). CONCLUSION: The incidence of CCHB among neonates born to mothers with SLE, which was measured in this study, was lower than that in earlier studies. A high incidence of hematologic abnormalities was found in our study. It is suggested that careful examination should be made of skin for the diagnosis of neonatal lupus.

A Case of Chilblain Lupus Erythematosus Associated with Antibodies to SSA/Ro / 대한피부과학회지

Chilblain lupus erythematosus (CLE) is a subtype of lupus erythematosus. It is characterized by cutaneous lesions located on the fingers, toes, nose, ears, elbows, heels and knees and is induced or aggravated by exposure to a cold or damp climate. Various laboratory alterations including antinuclear antibody (ANA), anti-dsDNA antibody, anti-SSA/SSB antibody, rheumatoid factor, and cryoglobulin have been reported in CLE patients. Especially, SSA/Ro antibodies may be especially associated with CLE. Approximately 20% of patients presenting with CLE later develop systemic lupus erythematosus (SLE). A 28-year-old man diagnosed with SLE presented with a 2-year history of pruritic erythematous plaques on the ears and dorsa of his hands and feet. The lesions developed or were aggravated the cold weather. In the summer, they were reported to improve, but they did not heal. ANA anti- SSA/SSB antibodies, and anti-dsDNA antibodies were found to be present. He was treated with a topical steroid and advised to avoid the cold.

Neonatal Lupus Erythematosus: Showing Target-like Skin Lesions / 대한피부과학회지

Neonatal lupus erythematosus(NLE) is a rare disease characterized by the transplacental passage from the mother to the fetus of autoantibodies, particularly autoantibodies of Ro family. The patient with NLE exhibits one or more of the following findings: congenital heart block, cutaneous lupus lesions, hepatobiliary disease and hematologic disorders(thrombocytopenia, anemia). We report a case of NLE in a 2-week-old male infant, born of a clinically asymptomatic mother, presenting multiple, round, target-like lesions which have not been reported in the English and Korean literature. Both infant and mother were positive for anti-SSA/Ro and anti-SSB/La.

Neonatal Lupus Erythematosus / 대한피부과학회지

Neonatal lupus erythematosus (NLE) is a transplacentally acquired autoimmune disorder, which is characterized by cutaneous lesions and/or congenital heart block and less commonly hepatic and hematologic abnormalities. Affected infants acquire anti-SSA/Ro antibody, anti-SSB/La antibody or less commonly anti-U1RNP antibody transplacentally from maternal circulation and it is generally thought that these antibodies are pathogenic. We report a case of NLE in a 40-day-old neonate who had erythematous annular patches on his face and extremities. Serological studies were reactive for antinuclear antibody of the speckled pattern and positive for anti-SSA/Ro antibodies and anti-SSB/La antibodies in both mother and infant. Addition to these findings, his mother had complained photosensitivity and arthralgia and showed hematological abnormalities including anemia and leukopenia, so we diagnosed his mother as systemic lupus erythematosus.