1/76. Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation.Several cases of hereditary glomerulopathy associated with an A to G transition at position 3243 in mitochondrial dna, which is known to be associated with most cases of melas syndrome (myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), have been recently reported. These patients share the characteristics of hereditary progressive glomerular disease and hearing loss with Alport syndrome. We therefore screened 27 patients with kidney disease clinically mimicking Alport syndrome for the presence of the 3243 mitochondrial mutation, and found one girl with the mutation and a positive family history. Her clinical features were very similar to those of all cases reported to date. An absence of hematuria, severe kidney involvement in a female, pathological changes of focal segmental glomerulosclerosis with no basket-weave change of the glomerular capillary wall, and the frequent association of steroid-induced diabetes are the major features that distinguish this condition from Alport syndrome. Careful neurological examination may detect neuromuscular symptoms compatible with mitochondrial cytopathies. In conclusion, progressive glomerulopathy should be included in the broad spectrum of mitochondrial cytopathies, especially in cases of melas syndrome. This mutation should also be included in the etiologies of secondary focal segmental glomerulosclerosis and in the differential diagnosis of Alport syndrome.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
2/76. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1beta are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with a syndrome of mild diabetes, progressive non-diabetic renal disease and severe genital malformations. The sequence of the HNF-1beta gene ( TCF2 ) revealed a 75 bp deletion in exon 2 (409-483del) which would result in the synthesis of a protein lacking amino acids Arg137 to Lys161 (R137-K161del). This deletion is located in the pseudo-POU region of HNF-1beta, a region implicated in the specificity of dna binding. Functional studies of R137-K161del HNF-1beta revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation. The R137-K161del allele co-segregated with diabetes and renal disease in pedigree N5. In addition, two of four female carriers with this mutation had vaginal aplasia and rudimentary uterus (Mullerian aplasia). These studies strongly suggest that heterozygous mutations in the HNF-1beta gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease. Moreover, the presence of internal genital malformations in two females suggests that additional clinical features may be associated with HNF-1beta mutations.- - - - - - - - - - ranking = 7keywords = diabetes (Clic here for more details about this article) |
3/76. 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 = diabetes (Clic here for more details about this article) |
4/76. Characterization of a novel mitochondrial dna deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.We have recently diagnosed a patient with anaemia, severe tubulopathy, and diabetes mellitus. As the clinical characteristics resembled Pearson marrow-pancreas syndrome, despite the absence of malfunctioning of the exocrine pancreas in this patient, we have performed dna analysis to seek for deletions in mtDNA. dna analysis showed a novel heteroplasmic deletion in mtDNA of 8034bp in length, with high proportions of deleted mtDNA in leukocytes, liver, kidney, and muscle. No deletion could be detected in mtDNA of leukocytes from her mother and young brother, indicating the sporadic occurrence of this deletion. During culture, skin fibroblasts exhibited a rapid decrease of heteroplasmy indicating a selection against the deletion in proliferating cells. We estimate that per cell division heteroplasmy levels decrease by 0.8%. By techniques of fluorescent in situ hybridisation (FISH) and mitochondria-mediated transformation of rho(o) cells we could show inter- as well as intracellular variation in the distribution of deleted mtDNA in a cell population of cultured skin fibroblasts. Furthermore, we studied the mitochondrial translation capacity in cybrid cells containing various proportions of deleted mtDNA. This result revealed a sharp threshold, around 80%, in the proportion of deleted mtDNA, above which there was strong depression of overall mitochondrial translation, and below which there was complementation of the deleted mtDNA by the wild-type dna. Moreover, catastrophic loss of mtDNA occurred in cybrid cells containing 80% deleted mtDNA.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
5/76. Renal mucormycosis in the hiv patient.mucormycosis is an increasingly recognized opportunistic infection. It usually affects patients with debilitating conditions such as cancer, diabetes mellitus, renal failure, and extensive burns. Mucor infection has also been described in human immunodeficiency virus (hiv) patients. The most common clinical presentations are the cerebral, cutaneous, and renal forms. We describe a unique case of bilateral renal mucormycosis presenting with renal failure in an hiv-infected patient. In the immunosuppressed host, a history of intravenous (IV) drug abuse associated with symptoms of pyelonephritis should alert the clinician to the possibility of mucor infection. Blood and urine culture are often negative. The diagnosis is made histologically in most cases. The treatment of hiv patients with mucormycosis and renal failure includes hemodialysis, nephrectomy, and intravenous amphotericin in addition to antiretroviral therapy. Bilateral renal involvement with Mucor carries a poor prognosis.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
6/76. smoking--a renal risk factor.One of the most important tasks of clinical and experimental nephrology is to identify the risk factors of progression of renal failure. A major renal risk factor which has not been sufficiently acknowledged despite increasing evidence is cigarette smoking. Diabetologists were the first to recognize the adverse effects of smoking on the kidney: both in type 1 and in type 2 diabetes smoking (i) increases the risk of development of nephropathy and (ii) nearly doubles the rate of progression to end-stage renal failure. Until recently it was not known whether smoking also increases the risk to progress to end-stage renal failure in patients with primary renal disease. A retrospective multicenter European case-control study showed that smoking is an independent risk factor for end-stage renal failure in patients with inflammatory and noninflammatory renal disease, i.e. IgA glomerulonephritis and polycystic kidney disease. The pathogenesis of the smoking-related renal damage is largely unknown. The intermittent increase in blood pressure during smoking seems to play a major role in causing renal damage, but further potential pathomechanisms are presumably also operative. smoking as a renal risk factor is of great interest to diabetologists as well as nephrologists, but unfortunately so far this information has had little impact on patient management. The present article reviews the current knowledge about the renal risks of smoking and discusses the potential mechanisms of smoking-mediated renal injury.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
7/76. Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.The hepatocyte nuclear factor-1beta (HNF-1beta) transcription factor controls endoderm development. Human mutations cause early-onset diabetes mellitus and have recently been associated with dysplastic, hypoplastic, and glomerulocystic kidneys. A new kindred with this "renal cysts and diabetes" syndrome is described, and nephrogenic HNF-1beta expression is defined. The proband had congenital cystic kidneys: over the next 12 yr, his renal function was impaired, but he was normoglycemic. His mother developed diabetes during pregnancy: renal ultrasonography at age 24 yr was normal, but she subsequently developed cysts. Both subjects have a heterozygous frameshift mutation in HNF-1beta that results from a 1-bp insertion in exon 5 (Y352fsinsA). When reverse-transcription PCR and in situ hybridization were used, HNF-1beta mRNA was detected in normal human metanephroi, with the highest levels of transcripts localized to fetal medullary and cortical collecting ducts and low levels of expression in nephrogenic cortex mesenchyme, primitive nephron tubules, and immature glomeruli. These results constitute the first demonstration of HNF-1beta expression during human nephrogenesis and emphasize a disease spectrum associated with HNF-1beta mutation.- - - - - - - - - - ranking = 7keywords = diabetes (Clic here for more details about this article) |
8/76. alstrom syndrome: a case report.alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and short stature. Previous studies, have reported no information regarding oral findings. This article describes oral findings in two cases of alstrom syndrome. In both cases, gingivitis was present and also light yellow-brown discolored enamel bands were observed on the anterior teeth. This staining may have resulted from discoloration of the preexisting slight band-like enamel hypoplasia. The gingiva was examined histologically by light and transmission electron microscopy. Irregular thickness of the basal lamina and delamination of the myelin sheath were detected by transmission electron microscopy. There is no information about pathological odontogenesis in alstrom syndrome in previous reports. Oral present findings may contribute further information about the clinical manifestations of alstrom syndrome.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
9/76. Primary renal candidiasis: fungal mycetomas in the kidney.Fungal infections of the urinary tract have a predilection for drainage structures rather than for the renal parenchyma. Of the causal factors, diabetes mellitus, immunosupressed states, AIDS and prematurity are those most commonly encountered. The case of a young, diabetic man whose chief clinical presentation was dysuria is described. On further examination he was found to harbour fungal balls in the right kidney. Radiological manifestations of acute pyelonephritis were also present. Although primary renal candidiasis is often commensurate with systemic fungaemia, he displayed none of the clinical features of disseminate infection and, hence, was treated conservatively with oral antifungal agents. Fortuitously, spontaneous passage of fungal particulate matter in urine was later reported.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
10/76. Transitional cell carcinoma of the renal pelvis presenting as a renal abscess.We report on a 76-year-old woman who was diagnosed with a primary renal abscess of the left kidney. After percutaneous drainage, no clinical improvement was observed. Surgical exploration and nephrectomy were performed. The histologic evaluation revealed an unsuspected transitional cell carcinoma of the renal pelvis, which had been misinterpreted as a primary renal abscess. Malignancy must be considered as an underlying cause for the formation of a renal abscess, especially if no other predisposing factors such as diabetes mellitus or urinary stones are present.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
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