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      The impact of renal angiomyolipoma on estimated glomerular filtration rate in patients with tuberous sclerosis complex

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          Abstract

          BACKGROUND

          There is a growing concern that renal impairment may develop in patients with renal angiomyolipomas (AMLs) associated with tuberous sclerosis complex (TSC) as a consequence of the disease itself and/or the interventions to mitigate the risk of hemorrhage.

          OBJECTIVE

          To assess the estimated glomerular filtration rate (eGFR) in patients with bilateral renal AMLs and the impact of tumor burden and intervention on renal function.

          DESIGN

          Retrospective study.

          SETTING

          Urology department of a tertiary care hospital.

          PATIENTS AND METHODS

          All adult patients (≥18 years of age) with TSC-associated renal AMLs seen from October 1998 to June 2015. We included only patients with bilateral tumors or solitary kidneys at the last follow-up.

          MAIN OUTCOME MEASURES

          The eGFR, renal volume, and number and type of interventions.

          RESULTS

          We identified 12 patients (median age 27.6, interquartile range 23.7–39.9 years), a median follow-up period of 1266 days (33–3133), and a median renal size of 454.7 mL (interquartile range 344.7–1016.9 on the right side; 558.1 mL, interquartile range 253.7–1001.4 on the left). In 11 (91.7%) patients, the eGFR was >60 mL/min/1.77 m 2. Six patients had three total nephrectomies, one had a contralateral partial nephrectomy, and seven had selective arterial embolizations. Intervention was associated with a significantly reduced eGFR. The renal size did not correlate with the eGFR.

          CONCLUSIONS

          TSC-associated renal AMLs may attain a large size but normal renal function is maintained in 92% of patients. Interventions to mitigate the risk of hemorrhage are associated with decreased renal function.

          LIMITATIONS

          The renal size was used as a surrogate for tumor size. Other limitations were the limited number of patients and lack of split renal function testing.

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          Most cited references23

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          Prediction of creatinine clearance from serum creatinine.

          A formula has been developed to predict creatinine clearance (Ccr) from serum creatinine (Scr) in adult males: (see article)(15% less in females). Derivation included the relationship found between age and 24-hour creatinine excretion/kg in 249 patients aged 18-92. Values for Ccr were predicted by this formula and four other methods and the results compared with the means of two 24-hour Ccr's measured in 236 patients. The above formula gave a correlation coefficient between predicted and mean measured Ccr's of 0.83; on average, the difference predicted and mean measured values was no greater than that between paired clearances. Factors for age and body weight must be included for reasonable prediction.
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            Contemporary diagnosis and management of renal angiomyolipoma.

            We present a comprehensive resource that summarizes contemporary advances relevant to the clinical management of renal angiomyolipoma. A MEDLINE search was done using the key words angiomyolipoma, hemangioma or lipoma and kidney neoplasm, and therapeutic embolization. References from these articles were reviewed to identify additional relevant source material. We identified 13 series published since 1986 comprising 336 patients as well as 24 reports of therapeutic embolization for angiomyolipoma, comprising 76 patients. To our knowledge we report the largest compilation series to date. Angiomyolipoma is generally benign, although an uncommon subtype (epithelioid angiomyolipoma) may behave more aggressively. Tuberous sclerosis associated angiomyolipoma tends to be larger, multiple and more likely to cause spontaneous hemorrhage than the sporadic entity. Tumors that hemorrhage tend to be larger. Computerized tomography or magnetic resonance is usually sufficient for diagnosis. Biopsy is rarely useful. Primary indications for intervention include symptoms such as pain or bleeding or suspicion of malignancy. Prophylactic intervention is justifiable for large tumors, in females of childbearing age or in patients in whom followup or access to emergency care may be inadequate. Recent advances that have affected management include improved understanding of tuberous sclerosis complex and angiomyolipoma genetics, the identification of molecular markers that facilitate histopathological diagnosis, and the refinement of embolization and partial nephrectomy techniques. Although some cases of angiomyolipoma may require complete nephrectomy, most can be managed by conservative nephron sparing approaches. Ongoing research into the molecular biology and clinical behavior of angiomyolipoma may improve our ability to manage these lesions.
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              Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.

              Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chromosome 16p. Renal cysts are often found in TSC, but a specific renal phenotype, distinguished by the severity and infantile presentation of the cystic changes, is seen in a small proportion of cases. We have identified large deletions disrupting TSC2 and PKD1 in each of six such cases studied. Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected.
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                Author and article information

                Journal
                Ann Saudi Med
                Ann Saudi Med
                Annals of Saudi Medicine
                King Faisal Specialist Hospital and Research Centre
                0256-4947
                0975-4466
                Sep-Oct 2016
                : 36
                : 5
                : 356-363
                Affiliations
                [a ]Department of Urology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
                [b ]Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
                Author notes
                Correspondence: Prof. Raouf Seyam, Department of Urology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia T: +966114424302, F: +966114424301, rmseyam@ 123456yahoo.com , ORCID: http://orcid.org/0000-0002-9908-9839
                Article
                asm-5-356
                10.5144/0256-4947.2016.356
                6074316
                27710989
                0a2913d9-f049-4fd2-821e-904d202d2b74
                Copyright © 2016, Annals of Saudi Medicine

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

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                Medicine
                Medicine

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