Anna Basok

Clinical and genetic characterization of an autosomal dominant nephropathy

Autosomal dominant familial nephropathies with adult onset, no macroscopic cysts, and progressive deterioration include medullary cystic disease (ADMCKD) as well as other less specific entities. We studied a kindred of Jewish ancestry in which 15 members (both male and female) have suffered from chronic renal failure. The first evidence of renal involvement was observed between 18 and 38 years. It included hypertension followed by progressive renal insufficiency. No polyuria, anemia, gout, hematuria, nor proteinuria were seen. An average of 4.5 years elapsed from diagnosis to end-stage renal disease. Renal pathology at early stages of the disease showed extensive tubulointerstitial fibrosis and global glomerulosclerosis. Linkage analysis was performed at the two known loci of ADMCKD, on Chromosomes 1 and 16. Linkage to the chromosome 16 locus was excluded. However, linkage to the chromosome 1q21 locus of ADMCKD was established with a maximum two-point LOD score of 3.82 to D1S394. The disease interval could be narrowed to about 9 cM/7.4 Mb between D1S1156 and D1S2635. Multiple-point linkage analysis revealed a maximum LOD of 4.21, with a broad peak from markers D1S2858 and D1S2624. This report establishes linkage between a familial nephropathy characterized by hypertension and progressive renal failure to the locus described for ADMCKD, a disease classically associated with macroscopic corticomedullary cysts, salt-losing tubulointerstitial nephropathy, and anemia. This finding broadens the clinical spectrum of ADMCKD positioned on chromosome 1q21 locus.

Severe Coombs'-negative autoimmune hemolytic anemia in a kidney transplant patient.

Background/Aim: Few cases are found in the literature regarding autoimmune hemolytic anemia which is Coombs’ test positive in kidney transplant patients, although hemolytic uremic syndrome due to cyclosporin and FK506 has been well described. In the following, we describe a case of severe life-threatening Coombs’ test negative autoimmune hemolytic anemia after kidney transplantation. Methods: Soon after undergoing renal transplantation, the patient presented with hemolytic anemia. Kidney biopsy, routine Coombs’ test, gel filtration and flow-cytometric assay were undertaken. Results: Kidney biopsy ruled out hemolytic uremic syndrome; although Coombs’ test and gel filtration assay were negative, flow cytometry revealed circulating antierythrocytic autoantibodies. Conclusions: Our findings indicate that flow cytometry may be an efficient method in the diagnosis of hemolysis of unknown origin in transplant patients. We further hypothesize that the underlying mechanism of autoimmune hemolytic anemia is related to the passenger B lymphocytes in the graft.

Aspergillus Peritonitis in Continuous Ambulatory Peritoneal Dialysis Patients

Aspergillus peritonitis is a rare and serious cause of peritonitis in continuous ambulatory peritoneal dialysis (CAPD) patients. We report 3 cases of aspergillus peritonitis in CAPD which were successfully treated by catheter removal and amphotericin. Two of the 3 patients returned temporarily to CAPD, but were subsequently transferred to hemodialysis because of membrane failure. A novel finding in 2 of the 3 cases was a positive Limulus amebocyte lysate test, despite negative bacterial cultures. We discuss the possible relevance of this finding to the diagnosis of aspergillus infections and emphasize the importance of early catheter removal for successful treatment of this condition.

Renal Transplant Dysfunction due to Severe Aorto-Iliac Atherosclerosis in the Presence of Patent Renal Transplant Artery

We report a case of progressive deterioration in renal function and decreased renal graft perfusion induced by extensive aorto-iliac atherosclerotic lesions proximal to a patent renal graft artery. Significant improvement in kidney graft function followed left axillo-femoral bypass graft surgery, which to the best of our knowledge, has never been performed previously for permanent maintenance of renal transplant perfusion.

Prolonged fever following kidney biopsy: a case report

This case report describes a patient with prolonged fever following a kidney biopsy. Workup disclosed a large perirenal and retroperitoneal hematoma. Neither imaging nor blood cultures supported an infective cause of his fever. Although the patient was initially treated with antibiotics, fever eventually resolved spontaneously. A review of the literature is provided addressing the association of fever with resorption of hematoma. Fever should be added to the list of potential complications of kidney biopsy. A conservative management is advocated.

Treatment of extreme hypercalcaemia: the role of haemodialysis

A patient with extremely high calcium level of 23.9 mg/dL (5.97 mmol/L) was admitted to our department unconscious with pathological ECG recording, demonstrating shortening of QT interval. The patient was treated by fluid resuscitation, bisphosphonates, salmon calcitonin and steroids. Haemodialysis with low calcium bath had been promptly provided with improvement of consciousness and calcium level. ECG changes disappeared. Subsequent investigations revealed hyperparathyroidism and a large parathyroid adenoma was then surgically removed. Extreme and rapid calcium elevation (parathyroid crisis) is rarely seen in primary hyperparathyroidism and usually is distinctive for malignancy. In the context of acute kidney injury and refractory hypercalcaemia with life-threatening complications (coma, ECG changes with impending danger of arrhythmia), haemodialysis may effectively decrease calcium levels. It should be pointed out that dialysis is an efficient method of treatment of refractory hypercalcaemia, parathyroid crisis, but it is rarely used due to its invasive nature.