RESUMEN
BACKGROUND: Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important. PATIENT AND METHODS: A term newborn suffered from progressive respiratory insufficiency, which led to death at the age of 4.8 months. The girl developed interstitial lung disease. Infections as well as structural and functional disorders of the lung were systematically excluded. A homozygous c.4681C > T (Arg 1561 Stop) mutation of the ABCA3 gene was identified. A literature review of the pathophysiology and treatment options of the disease was done. Therapeutic approaches with corticosteroids, macrolide, and hydroxychloroquine did not improve the clinical course. RESULTS: Therapeutic strategies for chronic interstitial lung disease have been used successfully in cases of a mild clinical course in juvenile patients with ABCA3 gene mutation. In our patient with homozygous ABCA3 gene mutation,they were not effective. Lung transplantation remains as a therapeutic option, but because of donor organ shortage and associated morbidity and mortality it is rarely feasible. CONCLUSION: More experience in the treatment of newborns with ABCA3 gene mutations is needed. Randomized, prospective evaluation of the different therapeutic approaches in a specific registry may improve prognosis and treatment of affected individuals.
Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Codón de Terminación/genética , Homocigoto , Mutación/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Insuficiencia Respiratoria/genética , Corticoesteroides/uso terapéutico , Aberraciones Cromosómicas , Resultado Fatal , Femenino , Genes Recesivos/genética , Humanos , Hidroxicloroquina/uso terapéutico , Lactante , Recién Nacido , Enfermedades Pulmonares Intersticiales/tratamiento farmacológico , Enfermedades Pulmonares Intersticiales/genética , Macrólidos/uso terapéutico , Síndrome de Dificultad Respiratoria del Recién Nacido/tratamiento farmacológico , Insuficiencia Respiratoria/tratamiento farmacológico , Insuficiencia del TratamientoRESUMEN
Cytologic-nucleolar grading of carcinomas includes mitotic frequency, mean nuclear size, nuclear variability, degree of chromasia and nucleolar frequency, and the occurrence of singular or multiple, small or large nucleoli in the central or peripheral location. A total of 186 renal cell carcinomas were analyzed cytologically in this respect. The results were correlated to the histologic pattern, tumor stage, and grading. Renal cell carcinomas of low malignancy and stage possess a low nucleolar frequency and small solitary nucleoli in the central location. Highly malignant carcinomas (T3 or T4) are characterized by high nucleolar frequency and multiple prominent nucleoli in the eccentric position. There is no correlation to the histologic pattern. Therefore, the nucleolar status is helpful in grading and determination of prognosis of renal cell carcinomas.
Asunto(s)
Carcinoma de Células Renales/patología , Nucléolo Celular/patología , Neoplasias Renales/patología , Humanos , Estadificación de NeoplasiasRESUMEN
Cytological-nucleolar grading of carcinomas includes mitotic frequency, mean nuclear size, nuclear varibility, degree of chromasia and nucleolar frequency, the occurrence of singular or multiple, small or large nucleoli in central or peripheral location. 186 renal cell carcinomas were analysed cytologically in this respect. The results were correlated to the histological pattern, tumor stage, and grading. Renal cell carcinomas of low malignancy possess a low nucleolar frequency and small solitary nucleoli in central location. Highly malignant carcinomas are characterised by high nucleolar frequency and multiple prominent nucleoli in eccentrical position. There is no correlation between nucleolar grading and histological pattern as well as tumor stage. Therefore, the nucleolar status is helpful in grading and determination of prognosis of renal cell carcinomas.