Diagnóstico genético de pacientes con agammaglobulinemia primaria atendidos en centros peruanos de tercer nivel / Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers

Las agammaglobulinemias primarias (AP) resultan de alteraciones específicas en las células B, lo cual, conduce a baja producción de anticuerpos. La sospecha diagnóstica se establece con el antecedente de infecciones a repetición, inmunoglobulinas bajas y la ausencia linfocitos B CD19+. El diagnóstico se confirma mediante el análisis genético y la detección de una mutación ligada en el cromosoma X o autosómico recesiva o dominante. En Perú, no hay literatura sobre AP ni reportes sobre el genotipo de los pacientes con sospecha de AP. Bajo este escenario, se realizó un estudio que describió el genotipo de pacientes con sospecha de AP. Se encontraron 20 pacientes con mutaciones en el gen BTK y una mutación autosómica recesiva IGHM. Se hallaron 13 mutaciones hereditarias y siete mutaciones de novo. Se concluye que las AP son, en su mayoría, mutaciones en el gen BTK que corresponden con AP ligadas al cromosoma X.

Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes. The diagnosis is confirmed by genetic analysis and the detection of a mutation linked to the X or autosomal recessive or dominant chromosome. In Peru, there is no literature on primary agammaglobulinemia and no reports on the genotype of patients with suspected primary agammaglobulinemia. Under this scenario, a study was performed to describe the genotype of patients with suspected primary agammaglobulinemia. Twenty (20) patients were found with mutations in the BTK gene and an autosomal recessive IGHM mutation. Thirteen (13) hereditary mutations and seven de novo mutations were found. It is concluded that the group of primary agammaglobulinemia are mostly mutations in the BTK gene, corresponding to X-linked agammaglobulinemia.

A case of light and heavy chain deposition disease / 中南大学学报(医学版)

Monoclonal immunoglobulin deposition disease is rare in medical practice. The light and heavy chain deposition disease is characterized by deposition of monoclonal antibodies in the basement of membrane. Kidney is the most frequently involved organ. There was a male patient diagnosed as light and heavy chain deposition disease in department of Nephrology of the Second Xiangya Hospital, Central South University by renal biopsy. After treatment by oral prednisone, melphalan and thalidomide, the patient's proteinuria and serum creatinine decreased. The retrospective analysis of this case provides a guide for doctors to understand the light and heavy chain deposition disease. Early diagnosis and treatment could improve the prognosis.

A concurrence of light and heavy chain deposition disease and diabetic nephropathy.

A 56-year-old female patient was clinically characterized by heavy proteinuria, anemia, hypertension, and no detectable monoclonal protein in serum or urine. She had a history of diabetes with retinopathy and hypertension. Histological investigation of renal biopsy specimens revealed nodular glomerulosclerosis. Light microscopic examination did not allow discrimination between diabetic glomerulosclerosis and monoclonal immunoglobulin deposition disease (MIDD). Immunofluorescent examination showed linear capillary wall and tubular basement membrane staining with kappa, and IgG staining. Electron-microscopic examination confirmed the amorphous material along the glomerular basement. Based on these findings, the diagnosis of light chain and heavy chain monoclonal immunoglobulin deposition disease (LHCDD) and diabetic nephropathy was made. At the present after the 7th course of melphalan and prednisolone treatment, her renal function and proteinuria have progressively improved.

Enfermedad de cadenas pesadas de tipo alfa: informe del primer caso diagnosticado en Cuba / Alpha-chain disease: report of the first case diagnosed in Cuba

Se presenta el caso de un paciente del sexo masculino, de 51 años de edad, afecto de un síndrome de mal absorción intestinal interpretado como secundario a una giardiasis con una evolución de casi 5 años. El estudio histológico de la biopsia del intestino delgado mostró infiltración por células linfoplasmocitarias y con técnicas de inmunofluorescencia directa se encontró población monoclonal de cadenas pesadas de tipo alfa, con ausencia de otras cadenas pesadas y ligeras. Se obtuvo respuesta favorable con desaparición del cuadro diarreico y mejoría del estado nutricional utilizando régimen cíclico, ciclofosfamida, vincristina, prednisona (COP) y tetraciclina oral, por espacio de 18 meses. Al cabo de un año y medio reaparecen las diarreas y la toma progresiva del estado general y fallece con uan diseminación por un linfoma inmunoblástico. Este es el primer caso de una enfermedad de cadenas pesadas tipo alfa informado en Cuba

Técnicas de inmunotransferencia: inmunofijación / Immunotransference technicas: immunofixation

La inmunofijación es un método simple para la rápida e inequívoca tipificación de Inmunoglobulinas Monoclonales (Igm). Consiste en un fraccionamiento electroforético previo, seguido de una reacción Antígeno-Anticuerpo in situ. En esta técnica se utiliza acetato de celulosa como medio soporte. Pueden tipificarse hasta 8 muestras por cada tira de 5,7 x 10,5 cm y se utilizan solamente 2,5 micronl de antisuero por muestra. La sensibilidad del método es del orden de los 10 ng/micronl y la caracterización inmunológica de las Igm puede realizarse en alrededor de 60 minutos

Condicoes imunoproliferativas do intestino delgado e linfoma do Mediterraneo. / Immunoproliferative conditions of the small intestine and Mediterranean lymphoma

Os autores estudam cinco pacientes portadores de malabsorcao e diarreia que melhoraram com o emprego de antibioticos. Os referidos pacientes foram estudados atraves de tecnicas imunologicas, determinacao da perda enterica de proteinas (51Cr), avaliacao da concentracao bacteriana no delgado superior e prova da pentagastrina, ao lado de exames clinicos rotineiros.Quatro dos pacientes chegaram a laparotomia, atingindo-se os seguintes diagnosticos: tres casos de doenca de cadeia alfa, um de linfoma misto do delgado situado paraproteina IgG em um deles. Os dados clinicos, laboratoriais e histopatologicos foram comparados, formulando-se a hipotese, tendo por base essa comparacao, que a doenca de cadeia alfa ocorre em individuos com deficiencia imunologica previa. Admitem tambem, em termos hipoteticos, que a doenca, o paciente apresenta melhores condicoes imunologicas. A doenca de cadeia alfa nao corresponde sempre ao linfoma plasmocitico tendo como orientacao a classificacao de Rappaport adaptada

Alpha chain disease in the Thai man.

A 61-year-old Thai man presented with a history of chronic diarrhoea of 1-2 years duration. Stool examination revealed a heavy parasitic infection. Several anthelminthics were given without benefit, despite disappearance of the intestinal parasites. Serum protein studies revealed abnormal alpha heavy chain. Two courses of cyclophosphamide, vincristine and prednisolone were followed by a brief remission in his symptoms. A 21 day course of tetracycline was then given, resulting in an improvement in his condition. He is still symptom free nine months after confirmation of the diagnosis, without any further treatment. Serum protein studies should be included in laboratory investigations of a patient with chronic diarrhoea.

Doenca da cadeia alfa. / Alpha chain disease

A doenca da cadeia alfa se caracteriza por uma infiltracao linfoplasmocitaria no intestino delgado e ganglios mesentericos.Os autores descrevem um caso e salientam a importancia do diagnostico precoce, assim como o valor da investigacao do intestino delgado pela cirurgia, com a finalidade de se obter um melhor estadiamento da molestia. Nos casos em que a infiltracao linfoplasmocitaria e restrita a mucosa, o uso de antibioticos provoca remissao da doenca por tempo prolongado. Quando a invasao atinge camadas mais profundas, como sub-mucosa e muscular, deve-se considerar a doenca como um verdadeiro linfoma, usando medicacao apropriada