Fabry's Disease: Case Series and Review of Literature.

Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare cause of end-stage renal disease. It classically affects males whereas 10-15% of female heterozygote carriers are affected depending on localization. Both the FD and its association with ESRD is rare. With this background, this case series of five patient's along with the review of literature is presented here.

Clinical course, laboratory parameters and outcome of TTP pediatric patients presenting with posterior reversible encephalopathy syndrome.

AIM: The clinical course and outcome of children with thrombotic thrombocytopenic purpura and posterior reversible encephalopathy has not been observed and studied till date. The aim of the present study was to know the clinical course and outcome of children with thrombotic thrombocytopenic purpura and posterior reversible encephalopathy. Results from our observation invite potential insight for further research on this subject. METHODS: From January 2005 to February 2013, seven children diagnosed with thrombotic thrombocytopenic purpura and posterior reversible encephalopathy syndromes were admitted in a tertiary care hospital in Srinagar, Kashmir. The demographic parameters, clinical characteristics and laboratory data were noted. The outcome was defined in the form of complete recovery or death. Thrombotic thrombocytopenic purpura was diagnosed on clinical grounds, laboratory parameters and renal biopsy. The diagnosis was established after an expert opinion from a hematologist. Posterior reversible encephalopathy syndrome was defined on neuroimaging. RESULTS: The common clinical parameters which were shared by all the patients were hypertension and altered sensorium. Four (57.1%) patients showed clinical deterioration and died within one week of admission even after intensive management. Three (42.8%) patients improved clinically and recovered fully and were discharged in stable clinical condition. Repeat imaging on discharge was normal. CONCLUSION: This series of seven pediatric patients is the first series on this subject. The presence of posterior reversible encephalopathy syndrome in pediatric patients with thrombotic thrombocytopenic purpura complicates the clinical course and worsens the prognosis.

Gastric varices: Classification, endoscopic and ultrasonographic management.

Gastric varices (GV) are responsible for 10-30% of all variceal hemorrhage. However, they tend to bleed more severely with higher mortality. Around 35-90% rebleed after spontaneous hemostasis. Approximately 50% of patients with cirrhosis of liver harbor gastroesophageal varices. In this review, new treatment modalities in the form of endoscopic treatment options and interventional radiological procedures have been discussed besides discussion on classification and pathophysiology of GV.

Polycythemia, increased erythropoietin levels in a patient with renal lymphoma.

A young male presented to our clinic with 3 months history of shortness of breathness and progressive distension of abdomen. On investigations, patient had renal failure, polycythemia and nephromegaly. A diagnosis of non-Hodgkin's lymphoma was made on renal and lymph node biopsy. Serum erythropoietin concentrations were physiologically inappropriate. - Erythropoietin immunohistochemistry on renal tissue samples demonstrated positive staining for tumor cells. This patient was managed as a case of infiltrative lymphoproliferative disorder with kidney involvement having polycythemia owing to paraneoplastic Erythropoietin production and possibly local hypoxia produced by tumor cells. With maximum efforts, we could not find such an association in the literature.

Renal allograft transplant recipient with ruptured hydatid native kidney.

Echinococcosis of the kidneys in a renal transplant recipient is extremely rare and its occurrence being related to immunosuppression is a possibility which needs further characterisation. Ruptured renal hydatid in a renal transplant recipient is not reported so far to our best knowledge. We present a 42-year-old renal allograft receipient who presented one year after transplant with left flank pain, palpable left lumbar mass and gross hydatiduria. Investigations revealed a ruptured native hydatid kidney. Patient was managed with a combination of chemotherapy and left native nephrectomy and discharged in a satisfactory condition.

Emphysematous pyelonephritis caused by Candida parapsilosis: an unknown etiological agent.

Emphysematous pyelonephritis (EPN) a rare complication commonly seen in diabetic patients is a necrotising gas producing infection of the renal parenchyma and perinephric tissue predominantly caused by uropathogenic bacteria. Fungi have been rarely reported as the etiological agents, isolated from blood and/ or urine culture. We report a case of EPN caused by a rare etiological agent. A 60 year old diabetic female with no previous history of hospitalization presented to us with a short history of febrile illness associated with abdominal pain. Investigations revealed unilateral EPN "Wan type 1". Patient was treated with systemic antifungal therapy as per culture sensitivity and it alone proved to be an effective treatment of this clinically difficult condition. Patient was discharged in a satisfactory clinical condition. A rare etiology should always be kept in mind while evaluating a case of EPN.

Prevalence of metabolic syndrome in Kashmir valley of Indian subcontinent.

BACKGROUND: This study was conducted to evaluate the prevalence of metabolic syndrome in Kashmir valley of North India. MATERIALS AND METHODS: The study was done among the attendants who accompanied patients in inpatient and outpatient departments of Sher-i-Kashmir Institute of Medical Sciences, Srinagar (Kashmir). A stratified random sampling procedure was adopted for the study. A total of 500 subjects were studied over a period of one year which included 257 men and 243 women. All subjects underwent anthropometric assessment and blood pressure measurements. Fasting blood sample was obtained for blood glucose and lipids. Subjects were screened for the components of metabolic syndrome according to criteria given by adult treatment panel (ATP-III). Analysis and inference were drawn using Student's test, chi-square test, Man Whitney U test, and logistic regression analysis. RESULTS: The mean age of both men and women was 37 years. The prevalence of metabolic syndrome was 8.6% (n =43); with males constituting 7.4% (n =19) and females constituting 9.9% (n =24). Though prevalence was more in females, it was insignificant (P =0.323). The prevalence of hypertension in males was 24.9% and in females it was 12.3%. The prevalence of hyperglycemia in males was 9.3% and in females it was 7.4%. 9.7% males and 25.9% females had low HDL-cholesterol. 17% males and 13.2% females had elevated triglyceride levels. CONCLUSION: Our study showed low prevalence of metabolic syndrome as compared to South and North Indian population.