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      Esclerosis tuberosa sangrante.: Caso clínico en un paciente Testigo de Jehová Translated title: Tuberous sclerosis.: Report of a Jehovah witness patient

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          Translated abstract

          We report a 26 years old male with a tuberous sclerosis with multiple and bilateral kidney cysts and angiomyolipomas. The patient presented to the emergency room with a severe abdominal pain and anemia, secondary to a bleeding angiomyolipoma. The patient rejected blood transfusions due to his religious beliefs. A selective angiography was performed confirming diagnosis and the lesion artery was selectively embolized, stopping the bleeding immediately. The patient had a satisfactory evolution thereafter. This is a rare lesion and the fact that the patient was a Jehovah witness that rejected blood transfusions, required an innovative medical approach.

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          Most cited references24

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          The management of renal angiomyolipoma.

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            Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

            Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.
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              Renal lesions in tuberous sclerosis.

              The renal lesion classically associated with tuberous sclerosis is angiomyolipoma. Renal cysts are less frequent, occurring alone or in conjunction with angiomyolipomas. We reviewed the records of 274 patients with tuberous sclerosis registered at our clinic. Of 95 patients evaluated for renal lesions 51 (54 per cent) had positive findings: 45 had angiomyolipomas, 17 had renal cysts and 11 had both lesions. These lesions usually are multiple and bilateral, and are diagnosed most effectively with computerized tomography or ultrasound. Surgery (10 kidneys) was done for life-threatening hemorrhage or suspected malignant lesions.
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                Author and article information

                Journal
                rmc
                Revista médica de Chile
                Rev. méd. Chile
                Sociedad Médica de Santiago (Santiago, , Chile )
                0034-9887
                November 1999
                : 127
                : 11
                : 1365-1368
                Article
                S0034-98871999001100011 S0034-9887(99)12701100011
                10.4067/S0034-98871999001100011
                aa147a29-4d57-4d7c-901a-e4b41e6bb195

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                : 29 April 1999
                : 02 September 1999
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 15, Pages: 4
                Product

                SciELO Chile

                Categories
                CASOS CLINICOS

                Embolization, therapeutic,Jehova’s witnesses,Tuberous sclerosis

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