Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic variants in either PKD1 or PKD2 gene. There is no comprehensive genetic data from Indian subcontinent. We aimed to identify the pathogenic variants in the heterogeneous Indian population. PKD1 and PKD2 variants were identified by direct gene sequencing and/or multiplex ligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD. The pathogenic potential of the variants was evaluated computationally and were classified according to ACMG guidelines. Overall 300 variants were observed in PKD1 and PKD2 genes, of which 141 (47%) have been reported previously as benign. The remaining 159 variants were categorized into different classes based on their pathogenicity. Pathogenic variants were observed in 105 (84%) of 125 patients, of which 99 (94.3%) were linked to PKD1 gene and 6 (6.1%) to PKD2 gene. Of 159 variants, 97 were novel variants, of which 43 (44.33%) were pathogenic, and 10 (10.31%) were of uncertain significance. Our data demonstrate the diverse genotypic makeup of single gene disorders in India as compared to the West. These data would be valuable in counseling and further identification of probable donors among the relatives of patients with ADPKD.

Unusual Presentation of Light Chain Deposition Disease: A Case Report.

Light Chain Deposition Disease (LCDD) is a rare disease characterized by deposition of monoclonal non-amyloid light chains in multiple organs. We report an unusual histologic manifestation of LCDD in a 55-year-old female patient, who presented with nephrotic syndrome and an increased serum creatinine. This case of LCDD had features of cast nephropathy on biopsy which is diagnostic of myeloma kidney, when the patient was clinically asymptomatic. Serum electrophoresis showed no abnormal band. There was no other evidence of a B-cell clonal disorder or amyloidosis. Following chemotherapy, improvement in renal function correlated with a reduction in circulating light-chain levels.

Efficacy and safety of oral gemifloxacin for the empirical treatment of pneumonia.

CONTEXT: Respiratory tract infections (RTI) are common causes of morbidity and mortality worldwide. Initial antibiotic therapy in upper and lower respiratory tract infections is usually empirical. The increasing evidence of antibacterial resistance in the pathogens commonly associated with pneumonia has raised concerns about the efficacy of currently available therapies and poses a challenge to clinicians. Gemifloxacin is a synthetic fluoroquinolone antimicrobial agent exhibiting potent activity against most Gram negative and Gram positive organisms. Hence, this study was planned to evaluate the efficacy of gemifloxacin as an empirical therapy in pneumonia. MATERIALS AND METHODS: This was an open labelled, single-arm study. Patients with clinical features of community acquired pneumonia (CAP) who fulfilled the inclusion criteria received treatment with oral gemifloxacin 320 mg once daily for 5-7 days. Once enrolled in the study, patients were treated as outpatient or as inpatient depending on clinical need. The primary efficacy was to evaluate the clinical response at the end of therapy, i.e., day 9-11 for CAP. Secondary efficacy parameters included radiological and bacteriological response at the end of therapy. Patients were evaluated three times during the entire course of treatment (Visit 1, Day 0; Visit 2, Day 2-4; Visit 3, Day 9-11) for their clinical, radiological and/or bacteriological response, as well as for safety assessment. RESULTS: A total of 105 patients received the study medication (gemifloxacin 320 mg orally). Two patients were "lost to follow-up" and one patient had to discontinue medication due to insufficient therapeutic effects. Clinical response at the end of therapy was successful in 99 (96.1%) while clinical failure was reported in 4 (3.9%) patient. As per the radiological response, 77.1% of the total cases showed improvement, 8.6% had no change, and 2.9% cases had deterioration in radiological findings. Gemifloxacin is an effective drug in the management of CAP. CONCLUSIONS: Gemifloxacin with coverage against both Gram positive and Gram negative organisms as well as atypical pathogens, with once daily oral dosing and minimum side effect is a very effective and economical choice for treating CAP empirically.