Renal lesions in tuberous sclerosis

Renal tumours, in tuberous sclerosis, are mainly benign and correspond to angiomyolipomas, multiple and bilateral, sometimes enormous with an hemorrhagic risk, frequently associated with cysts of variable size and number and seldom with high metastatic carcinomas. Chronic renal failure is rare and related to focal glomerulosclerosis secondary to hyperfiltration due to nephronic reduction owing to surgery or to tumour invasion, in particular cysts. Data about 65 patients with tuberous sclerosis and chronic renal failure were collected thanks to a national survey. They were females in 63.1% of cases, with a mean age of 29, 2 years at the time of the diagnosis of tuberous sclerosis, revealed in near half of cases by renal involvement. There were angiomyolipomas in 23.1% of cases, cysts in 18.5%, both in 53.8% and malignancies in 12.3%. All but one of the 48 patients with end stage renal failure were treated by dialysis; 20 were transplanted, with good results.     

Renal angiomyolipoma in Japanese tuberous sclerosis patients

Purpose

Renal angiomyolipoma (AML) is a benign neoplasm that may grow massive in tuberous sclerosis (TS) patients. The aim of this study was to document the characteristics of renal AML in Japanese TS patients.

Methods

Medical records of 29 TS patients followed up at the authors’ center were reviewed for the presence, size, symptom, and treatment of renal AML.

Results

Twenty-four patients screened for renal AML were subdivided into 4 groups: group 0 (n = 8), no mass; group 1 (n = 5), AML less than 1 cm in diameter; group 2 (n = 4), AML 1 to 4 cm in diameter; group 3 (n = 7), AML greater than 4 cm in diameter. When present, AML always affected both kidneys and were multiple. All patients in groups 1 and 2 were symptom free, and the tumors seemed stable in size. All tumors in group 3 grew progressively causing various symptoms. Total or partial nephrectomy or transarterial embolization was performed in 5 patients with limited success.

Conclusions

AML in TS patients can be stable or aggressive. Pediatric surgeons aware of this problem should be involved in a follow-up program.     

Renal cystic disease in the tuberous sclerosis complex

Renal cysts are relatively common in tuberous sclerosis, occasionally causing severe cystic disease with renal failure. Although the imaging features and gross appearances resemble dominant polycystic kidney disease, the histopathological appearances are distinctive, perhaps unique, differing from appearances in other forms of renal cystic disease. The cysts are lined with hypertrophic and hyperplastic cells that probably cause the cysts by obstructing lumina. The renal abnormality may be inherent in tuberous sclerosis, although inconstantly expressed. Renal enlargement is sometimes the first recognized expression of tuberous sclerosis, and the occurrence of renal cysts in a child with seizures and developmental retardation leads to a strong suspicion of the diagnosis.Presented at the Festschrift for Professor R. H. R. White on March 6, 1992, Birmingham, UK     

Renal leiomyosarcoma in a patient with tuberous sclerosis

We report the case of a 16-year-old patient with tuberous sclerosis that presented as renal leiomyosarcoma. This is an exceptional form of presentation of this tumor. An angiomyolipoma has to be first suspected in this group of patients. If the diagnosis is not confirmed by the imaging studies, radical surgery is recommended.     

Argon laser surgery of skin lesions in tuberous sclerosis

Two patients with tuberous sclerosis whose skin lesions included facial angiofibromas (adenoma sebaceum), fibromatous pigmented plaque, and periungual fibromas were treated with the argon laser. Their lesions responded favorably and did not recur during our follow-up period of four to five years.     

Renal involvement in tuberous sclerosis complex: a retrospective survey

In a retrospective survey performed in Germany and Switzerland, 207 patients (ranging in age from newborn to 70 years) were evaluated in order to establish the frequency, prognosis and diagnostic awareness of kidney involvement in the tuberous sclerosis complex. Renal manifestations were observed in 48% of patients: renal cysts (33 patients), renal angiomyolipoma (AML) (30 patients), a combination of both (8 patients), renal cell carcinoma (3 patients), life-threatening events such as haemorrhage (4 patients), hypertensive crisis (2 patients) and chronic renal failure (10 patients) were also documented. The diagnostic imaging techniques of ultrasonography, intravenous urography, computed tomography and magnetic resonance imaging (MRI) are important but do not always yield definitive information. Differentiation between AML and cysts can be achieved using special MRI techniques (RARE). The potential for renal involvement should be monitored in all patients with the tuberous sclerosis complex.Participating centres and principal investigators (in alphabetical order): Altötting, PD Dr. R. Schmid; Berlin, Charité, Prof. Dévaux; Bern, Dr. Penzien; Bonn, PD Dr. Zerres; Dortmund, Humangenetisches Institut; Dresden, Prof. P. Lorenz; Erlangen, Prof. H.-P. Rott; Freiburg, PD Dr. L. B. Zimmerhackl, Dr. Rehm; Hannover. Prof. J. Brodehl; Heidelberg, Prof. K. Schärer, Fr. Dr. Wingen; Jena, Prof. Misselwitz; Karlsruhe, Prof. Schindera; Leipzig, Prof. Theile, Dr. Wässer; Lübeck, Dr. Kirschstein; Lüdenscheid, Prof. Weber; Marburg, Dr. Nolte; Münster, Dr. Kurlemann, Prof. Bulla; Neuwied, Dr. Gellisen; Rostock, Doz. Dr. Stolpe; Stuttgart, Dr. Köhler, Dr. Holder.     

Renal oncocytoma and tuberous sclerosis. A case report

Renal oncocytoma is a tumour receiving increasing recognition. Recently 3 patients with such tumours were treated at this hospital and a further case with tuberous sclerosis, polycystic disease and unilateral fused kidneys has now been seen.     

Renal cell carcinoma and angiomyolipoma in tuberous sclerosis. Case report

The association of angiomyolipoma with renal cell carcinoma in tuberous sclerosis is extremely rare, although the relation between tuberous sclerosis and angiomyolipoma of the kidney is widely recognized. We report here a case of bilateral angiomyolipoma and renal cell carcinoma of the right kidney with tuberous sclerosis and demonstrate the diagnostic difficulties in distinguishing between these tumors.     

Renal cell carcinoma and angiomyolipoma in tuberous sclerosis: case report

We report a case of renal failure in a solitary kidney with manifestation of tuberous sclerosis, synchronous renal cell carcinoma and angiolipomatosis. A review of the literature disclosed the rare coexistence of these 2 tumors in tuberous sclerosis and the diagnostic difficulties in distinguishing these neoplasms.     

Renal oncocytoma associated with tuberous sclerosis: report of a case

A case of a renal oncocytoma associated with tuberous sclerosis in a 31-year-old woman is reported. She displayed many characteristic skin features of tuberous sclerosis but no central nervous symptoms. Although she complained of dysmenorrhea and hypermenorrhea, she had no complaints related to the kidney. A left renal tumor was discovered incidentally during preoperative examination for gynecologic disease and left nephrectomy was performed. Histologically, the tumor was shown to be a typical renal oncocytoma. This is supposed to be the first case of renal oncocytoma associated with tuberous sclerosis in Japan.     

Renal failure secondary to angiomyolipoma. Case of Forme-Fruste tuberous sclerosis

A fifty-four-year-old woman without the clinical features of tuberous sclerosis underwent nephrectomy at age thirty-three years for angiomyolipoma, and twenty-one years later severe renal failure developed. At necropsy the remaining kidney had extensive angiomyolipomatous involvement; not until the brain was examined was the diagnosis of tuberous sclerosis made. To date, this would appear to be the third case without clinical tuberous sclerosis in which renal involvement was the sole clinical expression of tuberous sclerosis, and the seventh reported instance of renal failure due to renal angiomyolipomatous hamartomatous transformation.     

Renal angiomyolipoma associated with tuberous sclerosis. Review of the literature

A case of bilateral renal angiomyolipoma associated with tuberous sclerosis is presented. Although in our patient right renal biopsy specimen demonstrated angiomyoma, we believe that the lipomatous element could be found in a larger specimen. Roentgenographic and therapeutic considerations are presented and the different lesions of tuberous sclerosis reviewed. Unlike most patients exhibiting stigmata of tuberous sclerosis, our patient had normal mentality and seizures preceded skin lesions. Fundoscopic examination revealed retinal arteriolitis with an occlusive phenomenon which, to our knowledge, has not been reported previously.     

Renal cell carcinoma associated with tuberous sclerosis: a case report

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.     

Renal angiomyolipoma: report of 2 cases of tuberous sclerosis in female siblings

Two cases of renal angiomyolipomas in female siblings associated with tuberous sclerosis were reported. The first case was a 47-year-old housewife who visited the hospital because of severe right flank pain. Bilateral renal angiomyolipomas and hemorrhage in the right angiomyolipoma were recognized by computerized tomography, ultrasonography and renal angiography. After 2 months she had another episode of left flank pain and was diagnosed to have hemorrhage in the left renal tumor. The pain remissed by conservative treatment. Bilateral nephrectomy and hemodialysis would be necessary if she were to have a third attack. The second case was her 36-year-old sister with the chief complaint of left flank pain and genital bleeding. CT and renal angiography suggested a large angiomyolipoma in her left kidney and a small one in her right kidney. Left nephrectomy, right partial nephrectomy and hysterectomy were performed to prevent intratumoral hemorrhage. The histopathological diagnosis was angiomyolipoma of kidneys, uterus and lymphnodes of right renal hilus. Although pre-operative differentiation of angiomyolipoma from renal cell carcinoma has been difficult, recently diagnosis has become possible by CT, ultra-sonography and angiography.