[Pulmonary disease in patients with tuberous sclerosis].
Tuberous sclerosis (TSC) is an autosomal dominant disorder with the incidence of 1/10 000. The disease is characterized by epilepsy, mental retardation, the occurrence of hamartomas in the various organs and angiomyolipomas in the kidney. According to the literature lung changes identical with lymphangioleiomyomatosis (LAM) occur in over 30% of TSC patients. We report on 6 cases diagnosed in our department in last 14 years. This is the largest group of patients with TSC and LAM collected in one center in Poland. All patient were women. The diagnosis of LAM was confirmed by lung biopsy in 5 patients and established on the basis of clinical presentation, lung function tests and high resolution computerized tomographic scanning (HRCT) of the lung in 1 case. The mean age at diagnosis of TSC was 21 years and at the diagnosis of LAM was 28 years. Typical skin changes, angiomyolipomas of the kidney and calcifications in the brain were documented in all patients, 4 patients had nefrectomy and 4 had at least one episode of sponateous pneumothorax. Epilepsy was diagnosed in 4 of 6 cases and mental retardation in 1 (17%). Abnormal values in pulmonary function tests were common. All but one demonstrated decrease in diffusing capacity (DLCO) below 80% of predicted. 5 out of 6 had FEV1 below 80% of predicted but only 3 had FEV1%VC below 80%. Only 3 patients were given antiestrogen therapy which was medroxyprogesterone in 2 cases and tamoxifen in 1. We are unable to conclude on the efficacy of treatment due to small number of treated patients. We conclude that TSC should be suspected in LAM patients and LAM should be considered in all women with the diagnosis of TSC.
I Klinika Chorób Płuc Instytut Gruźlicy i Chorób Płuc.
Sobiecka
S
Małgorzata
Korzeniewska-Koseła
KK
Maria
Kuś
K
Jan
D000293:Adolescent; D000328:Adult; D018207:Angiomyolipoma / Q000209:etiology; D002114:Calcinosis / Q000209:etiology; D004827:Epilepsy / Q000209:etiology; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology; D008171:Lung Diseases / Q000209:etiology* / Q000473:pathology; D018192:Lymphangioleiomyomatosis / Q000209:etiology* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000150:complications* / Q000503:physiopathology*