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A Cross Sectional Study Ofrenal Involvement in Tuberous Sclerosis

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A Cross Sectional Study Ofrenal Involvement in Tuberous Sclerosis 480 Med Genet 1996;33:480-484 A cross sectional study of renal involvement in tuberous sclerosis J Med Genet: first published as 10.1136/jmg.33.6.480 on 1 June 1996. Downloaded from J A Cook, K Oliver, R F Mueller, J Sampson Abstract There are two characteristic types of renal Renal disease is a frequent manifestation involvement in persons with TSC. (1) An- oftuberous sclerosis (TSC) and yet little is giomyolipomas. These are benign neoplasms known about its true prevalence or natural composed of mature adipose tissue, thick history. We reviewed the notes of 139 walled blood vessels, and smooth muscle in people with TSC, who had presented with- varying proportions. In the general population out renal symptoms, but who had been they are a rare finding affecting predominantly investigated by renal ultrasound. In- women (80%) in the third to fifth decade. formation on the frequency, type, and About 50% of people with angiomyolipomas symptomatology of renal involvement was have no stigmata of TSC and usually have retrieved. a large, single angiomyolipoma.6 In TSC the The prevalence ofrenal involvement was angiomyolipomas tend to be small, multiple, 61%. Angiomyolipomas were detected in and bilateral.7 Stillwell et al7 suggested that 49%, renal cysts in 32%, and renal car- there was an increase in the prevalence of cinoma in 2-2%. The prevalence of an- angiomyolipomas with age but only a limited giomyolipoma was positively correlated number of persons with TSC were studied. with age, compatible with a two hit aeti- (2) Renal cysts. These have a characteristic ology. Renal cysts were the commoner histology in TSC. They are lined with a hy- lesion in young children, and their pre- perplastic epithelium consisting ofeosinophilic, valence did not appear to be age related. columnar cells with a "piled up" appearance. Renal investigation in people with TSC This allows them to be differentiated from both had been inconsistent and limited. We sug- autosomal recessive and autosomal dominant gest guidelines for renal investigation in polycystic kidney disease. They can arise from those with TSC. all portions of the nephron and are char- (7Med Genet 1996;33:480-484) acteristically bilateral, multiple, and ofvariable Q size. Key words: tuberous sclerosis; angiomyolipoma; renal A number of reports have also suggested that cyst. there may be an increased incidence of renal http://jmg.bmj.com/ carcinoma in TSC.7 Tuberous sclerosis (TSC) is an inherited auto- somal dominant neurocutaneous syndrome and figures suggested for the incidence of TSC Methods A renal database for TSC was created. In order vary from 1 in 6000 to 1 in 15000.1 The to with clinical manifestations result from hamartomas to be added the renal database, people TSC had to fulfil the following criteria: (1) on September 27, 2021 by guest. Protected copyright. involving multiple organ systems, including the they met the definitive diagnostic criteria for brain, skin, eye, lung, heart, and kidney. The TSC2; (2) the date of birth was known; (3) the involvement in persons with TSC can vary patient had had a renal ultrasound, the results from very mild (a few skin lesions, a specific were accessible, and the date of the scan was of TSC on CT scan, neuroradiological finding known. but no evidence of fits or mental retardation) In an attempt to eliminate possible bias, to severe with fits which are difficult to control, patients who presented because of symptoms mental retardation, and severe skin and visceral owing to renal involvement before the diagnosis involvement.2 Departnent of ofTSC was made were not included. Over 450 Clinical Genetics, TSC exhibits locus heterogeneity with clin- case notes were in the two Ashley Wing, ically indistinguishable disease being caused by sets of reviewed St James' University centres (Leeds and Cardiff) which led to 139 mutations in two different genes. One gene Hospital, Beckett persons with TSC being added to the database. Street, Leeds LS9 7TF, (TSC2) has been identified on chromosome The information that was extracted from the UK 16' and a second gene (TSC1) has been loc- J A Cook notes included the reason for initial referral alised on chromosome 9.4 K Oliver and symptoms and signs of TSC, including Renal disease is the second commonest cause R F Mueller renal symptoms and signs. Results and timing of death in patients with TSC after central Institute of Medical Genetics, University nervous system causes and the commonest Hospital of Wales, cause of death in those over the age of 30.' If Table 1 Reasons for referral Cardiff, UK of com- better management neurological Fit control 50 J Sampson plications through improved imaging, anti- Specialist opinion 41 21 Correspondence to: epileptics, and neurosurgery improves survival, Genetic counselling/family history Dr Cook. New diagnosis of TSC 15 renal involvement might be expected to become General deterioration 8 Received 1 November 1995 a more medical of Behavioural problems 4 Revised version accepted for important complication Total 139 publication 19 January 1996 TSC. A cross sectional study of renal involvement in tuberous sclerosis 481 Table 2 Type andfrequency of complications associated with renal disease secondarily ascertained affected relatives. It had been hoped to compare data from the two Numbers Type of involvement groups, as secondarily ascertained relatives with Total number of 85/139 Angiomyolipomas only 40/85 TSC often have milder involvement than prob- J Med Genet: first published as 10.1136/jmg.33.6.480 on 1 June 1996. Downloaded from patients with renal Cysts only 17/85 lesions Both lesions 28/85 ands. However, the group was too small for Symptomatic patients 13/85 Angiomyolipomas only 7/13 with renal lesions Cysts only 1/13 meaningful comparison. Both lesions 5/13 Of the 139 patients studied, 85 (61%) had Frank haematuria 9/13 Angiomyolipomas only 4/9 of the males and 63% of Cysts only 1/9 renal lesions, 58% Both lesions 4/9 the females. Of these, 12 had also had renal Abdominal pain 4/13 Angiomyolipomas only 2/4 Cysts only 0/4 CT scans which had confirmed the findings on Both lesions 2/4 ultrasound. Most patients with renal lesions Impaired renal 4/13 Angiomyolipomas only 1/4 were 13 out of 85 function on U&E Cysts only 1/4 asymptomatic. Only patients Both lesions 2/4 (15%) had any symptoms (table 2). The com- Recurrent UTI/pyelonephritis 1/13 Angiomyolipomas only 1/1 was frank haematuria Cysts only 0/1 monest symptom which Both lesions 0/1 occurred in 9/13 symptomatic patients (9.4% of all patients with renal lesions). Haematuria was associated with angiomyolipomas in the majority ofcases (8/9). The incidence ofmicro- Table 3 Type andfrequency of renal lesion scopic haematuria may be much greater than Patients Total Male Female this but, almost invariably, routine urine micro- 139 75 (41%) 82 (59%) scopy was not carried out. Any lesion 61% (85) 58% (33) 63% £52) Other included abdominal Angiomyolipomas 49% (68) 44% (25) 52% (43) symptoms pain Cysts 32% (45) 32% (18) 34% (27) and recurrent urinary tract infections. Ab- Angiomyolipomas only 29% (40) 26% (15) 30% (25) dominal occurred in four all of Cysts only 12% (17) 14% (8) 11% (9) pain patients, Both lesions 20% (28) 18% (10) 22% (18) whom had angiomyolipomas. Blood pressure No lesion 39% (54) 42% (24) 37% (30) was only recorded in one set of notes. Of the 139 patients' notes we examined, only 45 had a documented urea, creatinine, and electrolyte Table 4 Number and distribution of renal lesions result. Only four patients had a serum cre- atinine level outside the normal range and none Angiomyolipomas (68) Renal cysts (45) had reached end stage renal failure. Creatinine Multiple 91% (62/68) 91% (41/45) clearance levels had been performed for two of Single 9% (6/68) 9% (4/45) Bilateral 84% (57/68) 82% (37/45) these patients and were impaired in both. There Unilateral 16% (11/68) 18% (8/45) was an equal distribution of angiomyolipomas and cysts among the four patients with impaired renal function, two had both angiomyolipomas of all renal ultrasounds and the results of renal and cysts, one had angiomyolipomas only, and CT scans if they had been performed were one had cysts only. http://jmg.bmj.com/ entered on the database, as well as the results Two patients had required embolisation of oftests ofrenal function, which were principally bleeding angiomyolipomas and one had re- urea, creatinine, and electrolyte estimations but quired a nephrectomy because of massive included creatinine clearance and nucleotide haemorrhage from an angiomyolipoma leading scans in a few cases. to necrosis of the kidney. A second patient had a nephrectomy because massive kidney Results enlargement from angiomyolipomas within the on September 27, 2021 by guest. Protected copyright. A total of 139 patients (57 male and 82 female) kidney and in the perirenal fat was thought to were entered on the database. Their ages have led to portal vein obstruction. This case ranged from 1 month to 66 years (mean age is complicated as the patient also has protein 19, median age 19). The reasons for referral C deficiency and it is unclear whether the for these patients are listed in table 1. Of these obstruction was the result of thrombosis or an 139 patients, 116 were probands and 23 were external pressure effect from the angio- myolipomas. We analysed the prevalence and type ofrenal Table 5 Frequency of renal angiomyolipoma according to age and sex involvement by sex (table 3). The proportion Age Total number Total number ofpatients Males Females of males and females with renal lesions did not ofpatients with angiomyolipomas differ significantly.
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