Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor.

Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains. The term beta thalassemia minor is used to describe heterozygotes, who carry one normal beta globin allele and one beta thalassemic allele. The vast majority of these patients are asymptomatic. However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with renal magnesium wasting, decreased tubular absorption of phosphorus, hypo-uricemia with renal uric acid wasting, renal glycosuria and tubular proteinuria have been described even in patients with beta thalassemia minor. We here in report a 24-year old female patient who was found to have thalassemia minor and nephrocalcinosis with evidence of renal tubular dysfunction. Investigations revealed normal renal function, hypercalciuria, reduced tubular reabsorption of phosphorus, hypomagnesemia and renal magnesium wasting. Screening for aminoaciduria was found to be negative. An acid loading test revealed normal urinary acidification. Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly. Detailed work up for anemia showed normal white cell and platelet count while peripheral smear showed microcytic hypochromic anemia with few target cells. Hemoglobin electrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% and hemo-globin F of 1.8% consistent with beta thalassemia minor. Her parental screening was normal. A diagnosis of beta thalassemia minor with renal tubular dysfunction was made and the patient was started on thiazide diuretics to reduce hypercalciuria and advised regular follow-up.

Epidemic of chronic kidney disease in India -what can be done?

The exact prevalence of chronic kidney disease in India is not clear in the absence of regular national registry data and provided only by small observational series or rely on reports from personal experience, but the quality of data is quiet uneven. There are only three population based studies in India commenting on the magnitude of chronic kidney disease. In a prevention program started at community level in Chennai, the reported prevalence is 0.86% in the project population and 1.39% in the control region. The second study is based on Delhi involving 4972 urban patients. The prevalence of chronic renal failure (defined as serum creatinine more than 1.8 mg/dL) to be 0.79 % or 7852 per million/population. The third study perhaps the only longitudinal study to identify the incidence of end stage renal disease is based on 572,029 subjects residing in city of Bhopal suggests that the average crude and age adjusted incidence rates of end stage renal disease were 151 and 232 per million population respectively. The resources and skill for taking care of this large case load, both in terms of personal and health care infrastructure do not exist currently and would need to be created. To tackle the problem of limited access to renal replacement therapy, an important method would be to try and reduce the incidence of end stage renal disease and the need of renal replacement therapy by preventive measures. It is clear that treatment of chronic kidney disease and its advanced stage end stage renal disease is expensive and beyond the reach of average Indian. Thus it is crucial that prevention of chronic kidney disease has to be the goal of medical fraternity, government of India and the general public. This article suggests a series of primary, secondary and tertiary preventive measures for prevention of chronic kidney disease. Clearly there are already many effective and attractive interventions for the treatment and prevention of chronic kidney disease exist and many more surely be developed.

Primary HIV infection presenting as non-traumatic rhabdomyolysis with acute renal failure.

Renal disease is a relatively common complication in patients infected with the human immunodeficiency virus (HIV). A collapsing form of focal glomerulosclerosis has been considered as the primary form of HIV nephropathy. HIV infection is also associated with an increasing number of different forms of renal disease. Acute renal failure (ARF) syndromes are frequently noted during the course of HIV infection. The most common include the following: acute and often reversible renal failure resulting from infection, hypotension, and administration of nephrotoxins used to treat opportunistic infections, and the use of highly active anti-retroviral therapy. ARF has been reported in up to 20% of hospitalized HIV infected patients compared to 3 to 5% of non-HIV infected patients. Primary HIV infection is usually symptomatic, and infected patients can present with a variety of symptoms. Although ARF syndromes are frequently noted during the course of infection, it is an uncommon presentation of primary HIV infection. We describe a 42-year-old man who presented at our hospital with acute self-limited rhabdomyolysis and who was found to have primary HIV infection. Our case and other reports suggest that a diagnosis of primary HIV infection needs to be considered in patients who present with acute rhabdomyolysis.