[Show abstract][Hide abstract] ABSTRACT: Abstract Distal renal tubular acidosis (dRTA) is an Autosomal recessive syndrome results defect in either proximal tubule bicarbonate reabsorption or in distal tubule H(+) secretion and is characterized by severe hyperchloraemic metabolic acidosis in childhood. dRTA is associated with functional variations in the ATP6V1B1 gene encoding β1 subunit of H(+) -ATPase, key membrane transporters for net acid excretion of α-intercalated cells of medullary collecting ducts. In the present study a 13 year old male patient suffering with nephropathy and sensorineural deafness was reported in the Department of Nephrology. We predicted improper functioning of ATP6V1B1 gene could be the reason for diseased condition. Therefore, exon 3, 4 and 7 contributing active site of ATP6V1B1 gene was amplified and sequenced (Accession number: KF571726, KM222653). The obtained sequence was BLAST searched against the wild type ATP6V1B1 gene which showed novel mutations c.307 A > G, c.308 C > A, c.310 C > G, c.704 T > C, c.705 G > T, c.709 A > G, c.710 A > G, c.714 G > A, c.716 C > A, c.717delC, c.722 C > G, c.728insG, c.741insT, c.753G > C. These mutations resulted in the expression of truncated protein terminating at Lys 209. The mutated ATP6V1B1structure was superimposed with wild type showed extensive variations with RMSD 1.336 Å and could not bind to substrate ADP leading to non functional ATPase. These results conclusively explain these mutations in ATP6V1B1 gene resulted in structural changes causing accumulation of H(+) ions contributing to dRTA with sensorineural deafness.
[Show abstract][Hide abstract] ABSTRACT: Mantle cell lymphoma is a rare form of B-cell lymphoma. We present a 54-year-old gentleman with mantle cell lymphoma. It was diagnosed based on the demonstration of B-cell antigens CD20 and CD5. It was further confirmed by demonstration of overexpression of cyclin D1 on these atypical lymphocytes in the immunohistochemical staining. He also had acute renal failure and proteinuria. Renal biopsy revealed crescents and lymphomatous infiltration of tubulointerstitium. The presence of infiltrating cells with similar markers in both the lymph node and the kidney confirmed the infiltration of kidney with lymphomatous cells. Our present patient, after a thorough literature search, is found to be the second one with a glomerular lesion and tubulointerstitial infiltration by malignant lymphoma cells.
Hemodialysis International 11/2014; 19(3). DOI:10.1111/hdi.12229 · 1.24 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Abstract Guillain-Barré syndrome (GBS), an acute inflammatory demyelinating polyneuropathy is the most common generalized paralytic disorder. The objective was to study the outcome of disability grade in two groups of GBS treated with plasmapheresis alone and treated with IVIg alone. A retrospective analysis of all consecutive patients with GBS, admitted in our intensive care unit during the period of 3 years, 2009-2012 were included in the study. All patients of GBS who were to be treated with plasmapheresis or IVIg, the modality of management were always decided at their preference and consent after explaining the modalities to patient/family. The plasma exchange done was ∼200-250 mL of plasma per kilogram weight in five sessions (40-50 mL/kg per session) within 7-14 days. The replacement fluid contained 100 mL of 20% albumin diluted in 1000 mL of normal saline and 1000 mL of fresh frozen plasma. IVIg was administered as 0.4 g/kg body weight daily for 5 days. Our observations brought out the following, both the plasmapheresis and IVIg treatments were effective in reducing the disability grade amongst all time points, i.e., at presentation, immediate post-therapy and after 4 weeks. There was a marginal superiority in plasmapheresis over IVIg effect. However, whether the delay in presentation as noted in our study probably would have contributed to this effect was conjectural.
[Show abstract][Hide abstract] ABSTRACT: The nutritional status in chronic kidney disease (CKD) patients is a predictor of prognosis during the first period of dialysis. Serum albumin is the most commonly used nutritional marker. Another index is plasma amino acid profile. Of these, the plasma levels of branched chain amino acids (BCAA), especially valine and leucine, correlate well with nutritional status. Plasma BCAAs were evaluated along with albumin and C-reactive protein in 15 patients of early stages of CKD and 15 age- and sex-matched healthy controls. A significant decrease in plasma valine, leucine and albumin levels was observed in CKD patients when compared with the controls (P <0.05). No significant difference in C-reactive protein (CRP) levels was observed between the two groups. Malnutrition seen in our CKD patients in the form of hypoalbuminemia and decreased concentrations of BCAA points to the need to evaluate the nutritional status in the early stages itself. Simple measures in the form of amino acid supplementation should be instituted early to decrease the morbidity and mortality before start of dialysis in these patients.
Saudi journal of kidney diseases and transplantation: an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 11/2012; 23(6):1202-7. DOI:10.4103/1319-2442.103560
[Show abstract][Hide abstract] ABSTRACT: In this prospective study, we aimed to assess the clinical characteristics of acute renal failure (ARF), determine oxidative stress, as well as to predict the outcome in patients with severe falciparum malaria (FM). The study included a total of 75 subjects; there were 25 adult patients with acute severe FM and ARF, 25 adult patients with uncomplicated FM without ARF, and 25 age- and sex-matched healthy subjects who served as controls. In patients with severe FM and ARF (n = 25), renal failure was non-oliguric in 28% and oliguric in 72%. The average duration of renal failure was 10.53 ± 4.0 days. Sixty percent recovered and 40% died. All patients with non-oliguric presentation recovered. The mean serum malondialdehyde (MDA) levels were 0.82 ± 0.43 μmol/L, 2.97 ± 1.11 μmol/L, and 6.86 ± 2.62 μmol/L, respectively, in healthy controls, in patients with uncomplicated FM, and in those with severe FM with ARF. The Acute Physiology Age and Chronic Health Evaluation II (APACHE II) score, Sequential Organ Failure Assessment (SOFA) score, and the Acute Tubular Necrosis-Individual Severity Index (ATN-ISI) score were all significantly higher in the expired group (19 ± 5.49) when compared to the survivor group (14.4 ± 3.15) (P = 0.014). Kaplan-Meier survival analysis showed that survival was low in patients with delayed hospitalization and longer duration of symptoms. Also, we observed a high occurrence of acute respiratory distress syndrome and central nervous system involvement among the patients who expired.
Saudi journal of kidney diseases and transplantation: an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 03/2012; 23(2):296-300.
[Show abstract][Hide abstract] ABSTRACT: Nephropathy is an important and a frequent complication of long-term type II diabetic nephropathy. Strong evidence exists that genetic predisposition plays a major role in the development of diabetic nephropathy. Recent studies have implicated association between angiotensin converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism and nephropathy. The deletion gene polymorphism of ACE gene has been shown to be associated with increased activity of this enzyme. This study examines the association of ACE I/D polymorphism with type II diabetes without nephropathy in 30 patients and type II diabetes with nephropathy in 30 patients. The results of the study suggest the association between the DD polymorphism and type II diabetes with nephropathy.
Indian Journal of Nephrology 10/2009; 19(4):145-8. DOI:10.4103/0971-4065.59335
[Show abstract][Hide abstract] ABSTRACT: Chronic kidney disease (CKD) is associated with a higher risk for stroke in studies from developed countries. This prospective study was conducted to study the clinical profile, management, and outcome of stroke in patients of chronic kidney disease who had been admitted in our institute during the period from December 2004 to December 2006. A higher incidence of stroke was found in men and in the fifth decade of life. Hypertension and diabetes were found in 88.8 and 48.1% of the patients respectively. CKD was detected for the first time during stroke evaluation in 55.5% of the patients. Stroke was due to cerebral infarction in 48.14% and due to cerebral hemorrhage in 40.7% of the patients. Surgical intervention was needed in 14.8% of all patients while stroke was managed medically in the rest. Over 70% of the patients were discharged after they showed improvement in the symptoms.
Indian Journal of Nephrology 01/2009; 19(1):5-7. DOI:10.4103/0971-4065.50672