1/168. Delayed methotrexate clearance in a patient with sickle cell anemia and osteosarcoma.A 15-year-old girl with homozygous sickle cell anemia (HbSS) and osteosarcoma is described. Delayed clearance of methotrexate (MTX) after the second course of high-dose MTX (HDMTX) led to the development of renal and hepatic toxicities. Rescue was accomplished with high-dose leucovorin, intravenous carboxypeptidase G2, and thymidine. Although the renal and hepatic abnormalities resolved, focal tonic-clonic seizures developed, accompanied by abnormal brain imaging. Four weeks after this episode, all clinical and biochemical abnormalities resolved. Preexistent end-organ damage associated with HbSS may compromise the ability to deliver high-dose chemotherapy with curative intent in patients with malignant disease.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/168. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. methods: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.- - - - - - - - - - ranking = 0.016980404287354keywords = nerve (Clic here for more details about this article) |
3/168. Clinical and radiological findings in patients with gas forming renal abscess treated conservatively.PURPOSE: Emphysematous pyelonephritis in diabetics is considered a potentially lethal infection. mortality rates of patients treated conservatively approaches 80% in some series. These patients often present with signs of sepsis or septic shock. In contrast, gas forming renal abscess is rare, with patients presenting entirely differently from those with emphysematous pyelonephritis. To our knowledge this process has been previously described only in isolated case reports. We describe a series of 5 patients with this distinct process. MATERIALS AND methods: We reviewed the clinical and radiological features of 5 patients with gas forming renal abscesses. RESULTS: Each patient presented with diabetes mellitus with initial blood glucose ranging from 313 to 552 mg./dl., fever (average 101F), flank or abdominal pain and pyuria. No patient had evidence of septic shock at hospitalization. escherichia coli was the documented organism in each case. Mild renal insufficiency was noted in most patients based on serum creatinine. Radiological evaluation revealed gas filled pockets within the renal parenchyma, which were most effectively shown by computerized tomography (CT) of the abdomen. There was no radiological evidence of pus. Percutaneous drainage of an abscess in 1 case did not produce any purulent material or alter the clinical course. Each patient responded to correction of the underlying metabolic abnormalities with intravenous antibiotics (average 23 days) followed by prolonged oral antibiotic therapy (average 9 weeks). In contrast to the management of emphysematous pyelonephritis, surgical or percutaneous drainage was not necessary. Serial CT revealed complete resolution of gas in the parenchyma within 6 months in patients with long-term followup. Of note, gas was persistent on CT months after infection had clinically resolved. CONCLUSIONS: We describe a unique entity within the spectrum of pyelonephritis. The clinical appearance of gas forming abscesses within the renal parenchyma without liquefaction in diabetic patients was remarkably benign compared to the radiographic appearance of the disease process. Conservative management with intravenous and oral antibiotics was successful in each patient, avoiding the need for invasive intervention.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
4/168. Renal involvement of thrombotic thrombocytopenic purpura: special reference to the glomeruloid structures.We report the case of a 9-year-old girl with biopsy-proven renal thrombotic microangiopathy in thrombotic thrombocytopenic purpura (TTP), with particular reference to the glomeruloid structures. The renal biopsy sample from this TTP patient revealed platelet thrombus deposition, a glomeruloid structure and aneurysm with relative sparing of the glomeruli. The glomeruloid structure displayed a proliferation of mainly capillary-sized channels lined by factor viii-related, antigen-positive plump endothelial cells embedded in the edematous connective tissue. These glomeruloid vessels communicated with the aneurysmal segment at the end portion of the arteriolar branch. We believe that the glomeruloid structures in TTP represent not merely organization or recanalization of thrombus but rather active angiogenesis through aneurysmal dilation in the arteriolized vessel, probably initiated by platelet agglutination.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
5/168. Papillary microcarcinoma of the thyroid gland in renal transplant patients.Among organ transplant recipients there is a world wide increase in the number of de novo tumors as well as a decrease in the time of the first appearance after the transplantation. Between 1973 and the 31st of August 1999 1709 cadaver renal allograft transplantations were performed in our Department. Four thyroid cancers were detected among the renal transplanted patients. Two of them proved to be papillary microcarcinomas. Although the elevated risk of thyroid cancers is well established in the literature papillary microcarcinomas have never been reported before in an immunosuppressed patient. Authors highlight that the thyroid gland should always be carefully checked in organ transplant recipients, since better survival might be achieved even in the immunosuppressed population. Metastatic tumor is relatively benign which is in correlation with the literature, but there has been little experience in organ transplanted patients so far.- - - - - - - - - - ranking = 3keywords = organ (Clic here for more details about this article) |
6/168. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family.A 53-year-old English woman who had been thought to have systemic monoclonal immunoglobulin light chain (AL) amyloidosis was investigated further because of her unusually long 17-year history and a suggestion of renal disease in the family. She was found to have the Glu526Val fibrinogen alpha-chain variant that causes autosomal dominant hereditary systemic amyloidosis. This has not previously been described in a British family. The mutant gene was associated with the same haplotype as in all other reported cases, suggesting a common founder. The patient had already received a renal transplant, but the graft failed within 6 years due to amyloid deposition. Progressive hepatic amyloidosis eventually caused liver failure, although the function of other organs was well preserved. She therefore received hepatic and renal transplants to replace the failed organs and the hepatic source of the amyloidogenic variant fibrinogen. Three years later she is completely well and has no amyloid deposits identifiable by serum amyloid P component scintigraphy. This is the first detailed report of hepatic transplantation for liver failure caused by amyloidosis of any type. The substantial follow-up suggests that fibrinogen alpha-chain amyloidosis is one of the inherited metabolic diseases that can be cured by liver transplantation. The mutation underlying Glu526Val fibrinogen alpha-chain amyloidosis is incompletely penetrant and has a variable phenotype that can clinically mimic AL amyloidosis. Hereditary fibrinogen amyloidosis may be more prevalent than previously suspected and, since AL amyloid is sometimes a diagnosis of exclusion, genotyping for other amyloidogenic proteins is mandatory in all cases in which the amyloid fibrils cannot be positively identified as AL.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
7/168. Large-cell calcifying Sertoli cell tumour of the testis: associated organ anomalies.A case is reported of unilateral, focal large-cell calcifying Sertoli cell tumour (LCCSCT) of the testis associated with complex endocrine disorders and cardiac myxomas. It is believed that there are two distinct groups of patients with this tumour: those who have complex dysplastic syndromes and bilateral and multifocal tumours; and those without any syndromes but who have unilateral and focal tumours. The presented case differs in that, although the patient has a unilateral focal tumour, unique organ anomalies, such as renal agenesis and inferior vena cava duplication, are also present. These anomalies with LCCSCT have not been reported before.- - - - - - - - - - ranking = 5keywords = organ (Clic here for more details about this article) |
8/168. Renal amyloidosis following tuberculosis.amyloidosis, either primary or secondary, may be defined as a group of chronic infiltrative disorders that have in common a beta-pleated sheet configuration on x-ray diffraction examination, a fine fibrillar nonbranching appearance on electron microscopy and an apple-green birefringence when examined under polarised light after staining with congo-red. Renal amyloidosis is a rare entity in the pediatric age group and is almost always secondary in nature, related to chronic infections and inflammatory conditions. It occurs 2-7 years after a chronic inflammatory process; however an onset as early as 9 months of life is known. The diagnosis of amyloidosis is suspected on the basis of clinical features and is established by obtaining an appropriate tissue biopsy and demonstrating amyloid with appropriate stains. All the tissues obtained must be stained with congo-red stain which is the singlemost useful diagnostic test to define amyloidosis. In order to differentiate the primary from secondary variety, the deposits may be treated with potassium permanganate before congo-red staining. In secondary amyloidosis, the green birefringence seen under polarized light is abolished. Therapeutic approaches include specific measures to reduce the amyloid deposition and general measures to relieve symptoms related to involvement of specific organs. The prognosis in renal amyloidosis is relatively poor, with a median survival of 9-13 months in primary amyloidosis complicated by renal involvement, and more than 50 months in secondary amyloidosis. We have reported a case of secondary amyloidosis following tuberculosis and have discussed the clinical features, diagnosis and management of amyloidosis.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/168. Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.PURPOSE: To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common cause. DESIGN: Observational case series and genetic study. PARTICIPANTS: Two unrelated probands presenting with absent central retinal vessels and 11 available family members. TESTING: Doppler ultrasonographic imaging of the optic nerves and kidneys, fluorescein angiography, and genetic testing for PAX2 mutations were performed. In selected cases, indocyanine green angiography, scanning laser ophthalmoscope perimetry, Retinal Thickness Analyzer measurements, visual evoked potentials, and magnetic resonance imaging were also performed. MAIN OUTCOME MEASURES: Better defined characteristics of the papillorenal syndrome. RESULTS: Numerous cilioretinal vessels were present with rudimentary or absent central retinal vessels. Superonasal visual field defects, typical for papillorenal syndrome, corresponded to inferotemporal areas of anomalous retinal and choroidal perfusion and hypoplastic retina. Renal hypoplasia was discovered in two affected members of one family (with previously unsuspected renal failure in one case), and recurrent pyelonephritis was discovered in four affected members of the other family. No PAX2 mutations were detected. CONCLUSIONS: In the papillorenal syndrome, the hereditary absence of central retinal vessels may be missed, leading to confusion with isolated coloboma, low-tension glaucoma, and morning glory anomaly. Greater awareness of this syndrome will avoid unneeded glaucoma therapy, allow earlier recognition of renal diseases, and allow genetic counseling. We propose that the papillorenal syndrome is a primary dysgenesis that causes vascular abnormalities predominantly affecting the eye, kidney, and urinary tract, leading to hypoplasia of these structures. The absence of defects in the PAX2 gene in these families suggests that mutations in other genes may also be responsible for this syndrome.- - - - - - - - - - ranking = 0.016980404287354keywords = nerve (Clic here for more details about this article) |
10/168. Mitochondrial tubulopathy: the many faces of mitochondrial disorders.We report a rare presentation of mitochondrial disorder in a child with recurrent carpopedal spasms due to hypocalcemia and hypomagnesemia, secondary to renal proximal tubulopathy and possible hypoparathyroidism. At least two mutant mitochondrial dna species were identified, and abnormal mitochondria were found in the muscle and renal biopsy specimens. The case illustrates the spectrum and diversity of mitochondrial presentations, arising because of heteroplasmy of mutations and the type of organs affected.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
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