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1.
Indian J Nephrol ; 32(4): 375-377, 2022.
Article in English | MEDLINE | ID: mdl-35967535

ABSTRACT

With recent advances in the treatment of human immunodeficiency virus (HIV), renal transplantation is no longer considered a contraindication in properly selected HIV-positive patients. Several studies have demonstrated comparable patient and graft outcomes between HIV-negative and HIV-positive renal transplant recipients. Most of the information on outcomes of HIV-positive to HIV-positive transplantation is based on data from deceased donors. There are only a handful of case reports about living donor renal transplantation in an HIV-positive patient from an HIV-positive donor. Furthermore, there is no report in the world of preemptive living donor renal transplantation in this setting. Here, we report a case of successful preemptive renal transplantation in an HIV-positive recipient from an HIV-positive living donor performed at our center.

2.
Indian J Nephrol ; 32(1): 79-81, 2022.
Article in English | MEDLINE | ID: mdl-35283574

ABSTRACT

Multiple myeloma commonly presents as anemia, renal failure, bone pain, and infections. Presentation with epistaxis is extremely rare, and hence myeloma as the etiologic factor is seldom considered. We report the case of a patient who initially presented with recurrent epistaxis and then with myasthenia. It was only when he developed acute kidney injury 4 months after the initial presentation with epistaxis that a diagnosis of multiple myeloma was made.

3.
Indian J Nephrol ; 31(5): 485-487, 2021.
Article in English | MEDLINE | ID: mdl-34880561

ABSTRACT

A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being evaluated as a potential donor, for renal transplant, was found to have proteinuria and a genetic study for the steroid-resistant nephrotic syndrome was done. This revealed mutation in the LMX1B gene. It is then that a diagnosis of nail-patella syndrome (NPS) was made. She underwent a successful renal transplant with her father as a donor and is doing well.

4.
Indian J Nephrol ; 30(4): 290-292, 2020.
Article in English | MEDLINE | ID: mdl-33273797

ABSTRACT

Adenine phosphororibosyl transferase (APRT) deficiency, a rare inborn error of metabolism is inherited as an autosomal recessive trait. It presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy and recurrent nephrolithiasis and often progresses to end stage renal disease (ESRD). After transplant, it can recur in the allograft. If APRT deficiency is recognized early, renal failure can be prevented, arrested or reversed in native kidney and in allograft by treatment with allopurinol, which inhibits xanthine oxidase and reduces 2,8-DHA formation. We report two cases of APRT deficiency from our center. DNA sequencing of APRT gene performed in one of the cases revealed a pathogenic variant in Exon1 of APRT gene (c.3G>C; p.Met1). This variant affects the translation initiation codon and results in a start loss. The variant has previously been reported in two cases with APRT deficiency.

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