Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Renal angiomyolipoma associated with tuberous sclerosis is well known. On the other hand, few cases of renal cell carcinoma in connection with tuberous sclerosis have been reported. We report a patient with tuberous sclerosis whose kidney was involved with renal cell carcinoma. A 18-year-old woman was first admitted in August 1987 for evaluation of left renal tumor. Diagnosis of tuberous sclerosis was made when she was 11 years old on the basis of mental retardation, papules on her face, seizures, white leaf-shaped macules and periventricular calcifications. Computerized tomographic scan demonstrated a large mass arising from the left kidney and small masses in the right kidney. Angiography confirmed bilateral hypervascular renal tumors. On these bases, a clinical diagnosis of bilateral renal angiomyolipomas was made and surgical treatment of the left kidney was recommended because of its large size. However, her parents did not permit treatment until March, 1988. Finally, left nephrectomy of 4,750 g was performed and histological examination revealed renal cell carcinoma with clusters of spindle cells. In the literature available to us, we found twelve reports of malignant renal tumors associated with tuberous sclerosis including five renal cell carcinomas in Japan.
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PMID:[Renal cell carcinoma associated with tuberous sclerosis: a case report]. 269 34

Renal angiomyolipoma is common in the tuberous sclerosis complex (TSC), the classic features of which are facial angiofibroma, seizures, and mental retardation. We report a family with three affected members demonstrating the wide spectrum of TSC-associated lesions ranging from asymptomatic findings to life-threatening complications. The predominant symptoms of the index patient were hypertension and mild renal insufficiency at age 48, resulting in end-stage renal failure at age 63 due to giant bilateral angiomyolipoma of the kidneys. The two TSC-affected siblings had died years previously, one from pulmonary lymphangioleiomyomatosis and the other during an epileptic state; the latter had situs inversus totalis as another remarkable finding. The diagnosis of TSC may be overlooked if CNS symptoms are absent and if cutaneous lesions are masked by cosmetic procedures, as occurred in the index case. Chronic renal failure due to angiomyolipoma is not widely known to clinical nephrologists, but develops in approximately 15% of TSC patients. Displacement of functional renal parenchyma by abnormal tissue appears to be the major pathogenetic mechanism leading to end-stage renal failure. Angiomyolipomas can be diagnosed from this characteristic sonographic pattern and the demonstration of fatty tissue in CT or MRI. Multiple renal cysts are also common in TSC. Therefore TSC should be considered in the differential diagnosis of polycystic kidney disease.
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PMID:Tuberous sclerosis complex with end-stage renal failure. 779 29

The coincidence of renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis is extremely rare, although the coexistence of tuberous sclerosis and renal angiomyolipoma is well recognized. A case of bilateral renal angiomyolipomas and left renal cell carcinoma in a patient with tuberous sclerosis is reported. A 40-year-old male was referred to our hospital for further evaluation and treatment of left flank masses. Tuberous sclerosis was diagnosed on the basis of adenoma sebaceum, seizures, mental retardation and periventricular calcification. Contrast enhanced CT scan demonstrated irregularly enhanced masses in the upper pole and the middle portion of the left kidney, and multiple small low density nodules in the bilateral kidneys. Selective left renal angiography showed hypervascular areas in the upper pole and the middle portion of the left kidney. From the findings obtained, a clinical diagnosis of left renal cell carcinoma associated with bilateral renal angiomyolipomas was made. Left radical nephrectomy was performed. The histopathological examination revealed renal cell carcinoma and multiple renal angiomyolipoma nodules. The diagnostic considerations, particularly differential diagnosis between renal angiomyolipoma and renal cell carcinoma by imaging features, are discussed.
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PMID:[Coincident renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis: a case report]. 794 68

Angiomyolipomas can occur sporadically or in association with tuberous sclerosis complex (TSC). TSC is an autosomal dominant disorder characterized by seizures, mental retardation, and benign tumors of the brain, heart, kidney, and skin. Angiomyolipomas are more common in women than in men, suggesting a possible hormonal influence on tumor growth. In this study, 35 angiomyolipomas from 23 patients were immunostained with antibodies to estrogen receptor (ER) and progesterone receptor (PR). Eleven angiomyolipomas (31%) contained clusters of PR-immunoreactive smooth muscle cells. None contained ER-immunoreactive cells. Of the 21 tumors from patients with TSC, 11 (48%) were PR immunoreactive. All of the PR-immunoreactive angiomyolipomas were from women younger than 50 years of age, and all except one of these women had TSC. This study suggests that hormonal factors play a role in the pathogenesis of TSC-associated angiomyolipomas.
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PMID:Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. 968 88

Important symptoms of tuberous sclerosis complex (TSC), an autosomal dominant disorder, are hamartomata in several organs, mental retardation and epilepsy. Either one of two loci can be involved (TSC1 and TSC2), of which the TSC2 gene has been cloned. To date, only 35 mutations in the TSC2 gene have been described ranging from large deletions to point mutations. Southern blot analysis using cDNA clones of the TSC2 gene was performed on a cohort of 160 unrelated TSC patients and revealed a 10 kb insertion. The insertion was also present in DNA of the affected father. Both patients showed renal angiomyolipoma, hypomelanotic macules and epilepsy. SSCP analysis of exons 1,2,3,9,12,14,30a and 36 identified two mutations in exon 30a: 3671del8 and S1221X. Symptoms of the sporadic patient with the 3671del8 mutation are cortical tubers, subependymal nodules, facial angiofibroma, ungual fibroma, renal angiomyolipoma, hypomelanotic macules, epilepsy and mental retardation. Clinical symptoms of the patient with the S1221X mutation are facial angiofibroma, ungual fibroma, hypomelanotic macules, epilepsy and mental retardation. His parents were negative for the S1221X mutation, although a germline mosaicism can not be excluded. Besides the previously described polymorphism 1596C->T, two rare variants were observed, a substitution of C->T at position 1294 and at position 1299 C->A.
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PMID:Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online. 1021 7

Pulmonary lymphangioleiomyomatosis (LAM) is a rare disorder limited almost exclusively to women of reproductive age. LAM affects about 5% of women with tuberous sclerosis complex (TSC). LAM also occurs in women who do not have TSC (sporadic LAM). TSC is a tumour suppressor gene syndrome characterised by seizures, mental retardation, and tumours in the brain, heart, and kidney. Angiomyolipomas, which are benign tumours with smooth muscle, fat, and dysplastic vascular components, are the most common renal tumour in TSC. Renal angiomyolipomas also occur in 63% of sporadic LAM patients. We recently found that 54% of these angiomyolipomas have TSC2 loss of heterozygosity, leading to the hypothesis that sporadic LAM is genetically related to TSC. In this study, we screened DNA from 21 women with sporadic LAM for mutations in all 41 exons of TSC2. Twelve of the patients had known renal angiomyolipomas. No TSC2 mutations were detected. We did find three silent TSC2 polymorphisms. We conclude that patients with sporadic LAM, including those with renal angiomyolipomas, do not have a high frequency of germline mutations in the coding region of TSC2.
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PMID:Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. 1063 37

Tuberous sclerosis complex is an autosomal-dominant disorder characterized by the triad of mental retardation, epilepsy and adenoma sebaceum. Micronodular pneumocyte hyperplasia is a rare but distinctive pulmonary epithelial lesion, usually associated with tuberous sclerosis. To the authors' knowledge, the relationship between renal angiomyolipoma and micronodular pneumocyte hyperplasia in cases of tuberous sclerosis has not received attention in the urological literature. The case of a woman with renal angiomyolipomas associated with micronodular pneumocyte hyperplasia of the lung with tuberous sclerosis is reported here.
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PMID:Renal angiomyolipoma associated with micronodular pneumocyte hyperplasia of the lung with tuberous sclerosis. 1132 26

Tuberous sclerosis was first described in 1862 by von Recklinghausen. Since then there have been many advances in our understanding of the diagnosis, pathogenesis, and treatment of this disease complex, especially after it was characterized genetically. While many patients who have tuberous sclerosis present with the classic triad of mental retardation, seizures, and facial "adenoma sebaceum," most do not because of its variable penetrance. The diagnostic criteria have been revised to include patients with tuberous sclerosis who do not match the classic pattern. Here we describe a 44-year-old female without a prior diagnosis who did not have the classic triad but who presented with flank pain. Hemorrhagic angiomyolipoma was diagnosed by computerized tomography scan and she was treated by an embolization procedure. We review tuberous sclerosis and underscore the need to consider this diagnosis for the following reasons: 1. it is not uncommon (slightly more than one in 6,000 live births); 2. its presentation is protean; 3. once the diagnosis is made, search can be made for associated findings that may lead to additional morbidity if not carefully managed, e.g., if an angio-myolipoma is diagnosed, it can be followed and possibly treated; and 4. owing to its autosomal dominant pattern of inheritance, members of the family can be screened appropriately.
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PMID:Hemorrhagic angiomyolipoma and tuberous sclerosis complex: a case report. 1280 49

Tuberous sclerosis - also called tuberous sclerosis complex (TSC) - is a rare, multi-system genetic disorder affecting cellular differentiation & proliferation, which results in hamartoma formation in many organs. The classic triad of clinical features comprises mental retardation, epilepsy & skin lesion, but these three features are not always present. Mrs. Jahanara Khatun, a 30 years old lady presented with maculo-papular skin lesions over the face, neck, shoulder since her six years of age, a lump in the right lumber region for four years, pain in the right lumber region associated with passage of blood clot in urine for 15 days. Her family history was very characteristic. One of her elder brother had developed same type of skin lesions. Again her 13 years old daughter had developed same type of skin lesions since seven years of age & she was mentally retarded. Clinical examination revealed normal mentation, pin head sized yellowish red translucent discrete waxy papules situated in the face, neck, shoulder. A large tender firm irregular mass in the right lumber region, which was ballotable & moved with respiration. USG revealed bilateral retroperitoneal masses with the involvement of right kidney & formation of renal artery aneurysm. The patient undergone right sided nephrectomy & histopathology of the specimen showed features suggestive of renal angiomyolipoma. The patient was diagnosed as a case of definite tuberous sclerosis complex as she had two major feature of revised diagnostic criteria - facial angiofibromas & renal angiomyolipoma.
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PMID:Tuberous sclerosis. 1474 93

Renal neoplasms are not necessarily high in frequency, but they are characteristic in their heterogeneity and occasional association with systemic familial tumor syndromes and phacomatoses (e.g. clear cell renal cell carcinoma and von Hippel-Lindau disease, Wilms tumor and aniridia, genitourinary malformation and mental retardation (so-called, WAGR syndrome), and angiomyolipoma and tuberous sclerosis). Physicians and pathologists should take note of these syndromes and associated renal neoplasms because they have provided important clues to elucidate the mechanism of tumorigenesis concerning cancer-suppressor genes. This review aims to present recent classification of renal parenchymal neoplasms based on their molecular biological characteristics, and future problems yet to be clarified.
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PMID:Pathological and molecular biological aspects of the renal epithelial neoplasms, up-to-date. 1514 95


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