Cases reported "Kidney Diseases"

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1/48. bk virus renal infection in a patient with the acquired immunodeficiency syndrome.

    BACKGROUND: We describe herein a patient with the acquired immunodeficiency syndrome and renal failure due to biopsy-proven bk virus (BKV) infection. Three months after the diagnosis of the renal viral infection, his condition remained unchanged. Although BKV has previously been shown to be associated with ureteral stenosis and renal damage in renal transplant patients, to our knowledge, the literature contains only 3 cases describing the presence of BKV lesions in the kidneys of immunosuppressed patients who had not undergone transplantation. methods: The presence of BKV infection was demonstrated by means of histology, immunohistochemistry with polyclonal anti-SV40 antibody, immunoelectron microscopy, polymerase chain reaction, and enzymatic cleavage with BamHI. RESULTS: Histologic examination revealed interstitial inflammatory infiltrates and tubules with enlarged and eosinophilic nuclei. CONCLUSIONS: The high frequency of latent BKV infection and its reactivation during immunosuppression suggest that the possibility of its involvement in renal damage should be considered in immunocompromised patients.
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2/48. milk of calcium in the inferior calyx of a hydronephrotic kidney in a tetraplegic patient - a diagnosis to be made before scheduling for extracorporeal shock wave lithotripsy.

    STUDY DESIGN: A Case Report of renal milk of calcium in a tetraplegic subject. OBJECTIVES: To increase the awareness of renal milk of calcium in spinal cord injury (SCI) physicians. Renal milk of calcium contains a colloidal suspension of calcium crystals. Since upright views of the kidneys are not performed in tetraplegic subjects, the renal milk of calcium may be misinterpreted as renal lithiasis by routine radiography taken in supine position. SETTING: Regional spinal injuries Centre, Southport, england. METHOD: In a 41-year-old male with traumatic tetraplegia, X-ray of abdomen in supine position showed multiple opacities in the region of the left kidney. These radio opaque shadows were interpreted as renal calculi. Subsequently, computed tomography (CT) of the kidneys was performed. RESULTS: CT confirmed the presence of calculi in the mid-polar calyx. However, the density situated in the inferior calyx of the hydronephrotic left kidney exhibited a horizontal upper edge. This specific radiological finding as observed in the CT of kidneys, provided the clue to the presence of milk of calcium in the inferior calyx of the hydronephrotic left kidney. CONCLUSION: As plain film of the abdomen in standing position is not performed in SCI patients, physicians caring for SCI patients should have a high index of suspicion for renal milk of calcium. Prompt diagnosis of renal milk of calcium will help to avoid unnecessary surgery, or extracorporeal shock wave lithotripsy.
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3/48. Management dilemmas in patients with hereditary renal adysplasia.

    We report a neonatal case of right renal aplasia with left dysplastic kidney and mild pulmonary hypoplasia. The respiratory insufficiency gradually improved on high frequency oscillation and conventional ventilation. Severe hypotension necessitated the use of inotrops. anuria and electrolyte imbalances were managed by peritoneal dialysis. At age 13 days the baby had a small bowel perforation, developed septic shock and, after discussion with the multi-disciplinary team and the family, inotropic support was withdrawn and the baby died. The family history revealed the father had a newborn from a previous marriage who died secondary to bilateral renal agenesis. Renal studies in the father showed agenesis of the kidney with normal renal functions suggesting the diagnosis of hereditary renal adysplasia, an autosomal dominant condition with variable expression. This case illustrates the importance of renal ultrasound of the parents and siblings of affected newborns with structural kidney anomalies. A general consensus is lacking as to which infants with bilateral renal adysplasia should be aggressively treated.
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4/48. Renal Behcet's disease: a cumulative analysis.

    OBJECTIVE: To analyze cumulated data about renal involvement in Behcet's disease (BD) and to report on 6 patients with BD and renal problems. methods: We found reports of 159 patients (including our patients) with BD and specific renal disease (amyloidosis 69, glomerulonephritis [GN] 51, renal vascular disease 35, and interstitial nephritis 4) in our survey. RESULTS: The frequency of renal problems among BD patients has been reported to vary between 0% to 55%. Male gender is a risk factor for all types of renal BD. nephrotic syndrome was present in 83% of patients with amyloidosis, and renal failure was common at the time of diagnosis. The mean interval between the initial manifestation of BD and diagnosis of amyloidosis was shorter in men than in women (P =.02). AA-type amyloid fibrils were shown in all cases studied. Vascular involvement was common in the patients with amyloidosis (60%). The renal findings in GN show a wide spectrum, from asymptomatic hematuria and/or proteinuria to rapidly progressive GN. Several types of glomerular lesions ranging from minor glomerular changes to crescentic glomerulonephritis are observed in BD. The common types of glomerular lesions among the reported cases are crescentic GN, proliferative GN, and immunoglobulin a (IgA) nephritis. Aneurysms may be located throughout the renal artery, from the orifice of the main artery to intrarenal microaneurysms. Another type of renal disease (amyloidosis or GN) and other major vascular involvement were present in all cases with renal vein thrombosis. hypertension is common among patients with renal artery aneurysm or stenosis. Microscopic vascular disease was described in 4 patients. CONCLUSIONS: Based on data in the literature, we suggest that renal involvement in BD is more frequent than has been recognized, although it is most often mild in nature. amyloidosis is one of the prognostic factors affecting survival. patients with vascular involvement carry high risk for amyloidosis, and administration of colchicine to these patients may be beneficial. More evidence is needed to accept interstitial nephritis as a manifestation of BD. In spite of some difficulties, hemodialysis and renal transplantation are safe treatment options in BD-related uremia.
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5/48. Unusual perirenal location of a tailgut cyst.

    The authors describe a case in which a tailgut cyst occurred at an unusual location in a 22-year-old woman referred for abdominal discomfort and urinary frequency. The left abdomen contained a palpable mass, found at imaging studies to be a homogeneous, unilocular and cystic, and anterior to the left kidney. After surgical excision, it was shown to be a tailgut cyst.
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6/48. An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects.

    OBJECTIVE: This study reports the clinical and molecular data of an XY patient with a very unusual phenotype due to a Wilms' tumor-suppressor (WT1) gene mutation. The genotype-phenotype relationship of different WT1 mutations is then discussed. PATIENT: The patient presented at birth with micropenis, severe hypospadias and cryptorchidism. Normal androgen production and an absence of clinical response to a testosterone treatment trial suggested partial androgen resistance. Eventually, female sex of rearing was chosen. At the beginning of puberty, normal male androgen production occurred, and subsequent gonadectomy did not show gonadal dysgenesis. It is notable that the patient, now 20 years of age, has not developed kidney disease. In addition to the genital malformation, the patient displayed an associated congenital heart defect, consisting of a coarctation of the aorta and a patent ductus arteriosis (PDA). RESULTS: No mutations were detected in the androgen receptor or 5alpha-reductase genes. Direct sequencing of the WT1 gene identified a heterozygous proline to serine substitution at position 181 (P181S). The same heterozygous mutation was found in the mother. Interestingly, the mother shows no signs of kidney disease at her present age of 49. CONCLUSION: This is the first germline missense mutation in the N-terminal part of WT1 identified in a patient with the very particular phenotype of ambiguous genitalia with absence of gonadal dysgenesis and kidney disease. The possible molecular mechanisms leading to the patient's phenotype are considered. The high frequency of PDA in newborns and the absence of heart abnormalities in XX females carrying the P181S mutation, however, suggest that the heart defect was most likely a coincidental association. This case enlarges the clinical spectrum of WT1 defects and may provide new insights into the complex functions of WT1 in genital and kidney development.
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7/48. Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy.

    Generalized lipodystrophy is characterized by adipose tissue absence, hypoleptinemia, hypertriglyceridemia, insulin resistance, diabetes, hepatomegaly, and nonalcoholic steatohepatitis. In the course of recruiting patients for treatment with recombinant leptin, we were struck by the frequency and severity of proteinuria. We evaluated 25 patients with generalized lipodystrophy. Eighteen were treated with recombinant leptin, and we have followed 15 on leptin for 4-36 months. We followed renal parameters at baseline and during follow-up visits. Renal biopsies were performed as clinically indicated. At baseline, 22 of 25 patients (88%) had elevated urine albumin excretion (>30 mg/24 h), 15 (60%) had macroalbuminuria (>300 mg/24 h), and five (20%) had nephrotic-range proteinuria (>3500 mg/24 h). Twenty-three (92%) had elevated creatinine clearance (>125 ml/min.1.73 m(2)). Eleven of 15 patients (73%) treated with recombinant leptin exhibited reduction in proteinuria, associated with reduction of hyperfiltration. Four patients who did not improve are discussed individually. Renal biopsy findings were remarkable for focal segmental glomerulosclerosis in four patients, membranoproliferative glomerulonephritis in two patients, and diabetic nephropathy in one patient. In conclusion, generalized lipodystrophy is associated with proteinuria and unique renal pathologies, including focal segmental glomerulosclerosis and membranoproliferative glomerulonephritis. The majority treated with recombinant leptin demonstrated reduction in proteinuria and hyperfiltration.
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8/48. Complete complement components C4A and C4B deficiencies in human kidney diseases and systemic lupus erythematosus.

    Although a heterozygous deficiency of either complement component C4A or C4B is common, and each has a frequency of approximately 20% in a Caucasian population, complete deficiencies of both C4A and C4B proteins are extremely rare. In this paper the clinical courses for seven complete C4 deficiency patients are described in detail, and the molecular defects for complete C4 deficiencies are elucidated. Three patients with homozygous HLA A24 Cw7 B38 DR13 had systemic lupus erythematosus, mesangial glomerulonephritis, and severe skin lesions or membranous nephropathy. Immunofixation, genomic restriction fragment length polymorphisms, and pulsed field gel electrophoresis experiments revealed the presence of monomodular RP-C4-CYP21-TNX (RCCX) modules, each containing a solitary, long C4A mutant gene. Sequencing of the mutant C4A genes revealed a 2-bp, GT deletion in exon 13 that leads to protein truncation. The other four patients with homozygous HLA A30 B18 DR7 had SLE, severe kidney disorders including mesangial or membranoproliferative glomerulonephritis, and/or Henoch Schoenlein purpura. Molecular genetic analyses revealed an unusual RCCX structure with two short C4B mutant genes, each followed by an intact gene for steroid 21-hydroxylase. Nine identical, intronic mutations were found in each mutant C4B. In particular, the 8127 g-->a mutation present at the donor site of intron 28 may cause an rna splice defect. Analyses of 12 complete C4 deficiency patients revealed two hot spots of deleterious mutations: one is located at exon 13, the others within a 2.6-kb genomic region spanning exons 20-29. Screening of these mutations may facilitate epidemiologic studies of C4 in infectious, autoimmune, and kidney diseases.
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9/48. Renal hydatid cyst presenting as perinephric and iliopsoas abscess.

    Hydatid disease is an infestation caused in humans by the larval forms of taenia echinococcus. Isolated renal hydatid cyst is rare with a frequency of 2-4% of hydatid disease. infection of hydatid cyst is a very rare condition. We describe a rare case of isolated renal hydatid cyst presenting as perinephric and iliopsoas abscess and discuss the dilemma in diagnosis and its management.
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10/48. Squamous cell carcinoma in the renal pelvis of a horseshoe kidney.

    We report a rare case of squamous cell carcinoma in the renal pelvis of a horseshoe kidney. An 80-year-old woman was referred to the National Nagano Hospital for the examination of occult blood in her urine. Microscopic hematuria was found, but pyuria was not seen. Computed tomography and magnetic resonance imaging showed a mass in the left renal pelvis of the horseshoe kidney. No renal stone or hydronephrosis was found. Cytopathological examination in the voided urine specimen was positive. Left nephroureterectomy with the splitting of the isthmus of the horseshoe kidney was performed without renal pedicle clamping using a microwave tissue coagulator. No bleeding was encountered after separating the isthmus. A final pathological diagnosis of squamous cell carcinoma with a tumor thrombus was made. lymph node metastasis had developed and rapidly progressed and the patient died of disseminated malignancy 4 months after the operation. We reviewed 24 cases of renal pelvic tumor in horseshoe kidneys previously reported in japan. Seven cases (30%) included components of squamous cell carcinoma. The incidence is higher than that of renal pelvic tumors in the general population.
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