A. V. S. S. N. Sridhar

Fatal poisoning by isoniazid and rifampicin

Isoniazid and rifampicin are used for management of tuberculosis. Acute poisoning due to isoniazid overdose is associated with repetitive generalized tonic-clonic seizures and severe metabolic acidosis. In toxic doses, rifampicin is known to produce hepatic, renal, hematological disorders, and convulsions. Sometimes, it may produce red man syndrome. We report a case of fatal poisoning with isoniazid and rifampicin. The case was characterized by late presentation, lactic acidosis, and renal failure.

Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness

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, exons 3, 4, and 7 contributing active site of ATP6V1B1 gene was amplified and sequenced (Accession numbers: KF571726, KM222653). The obtained sequences were 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 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.

Cutaneous fungal infection in a renal transplantation patient due to a rare fungus belonging to order Pleosporales.

Fungal infections are being increasingly reported from immuno-compromised as well as immuno-competent patients. Transplant patients are on long term immunosuppressive therapy which makes them highly vulnerable to opportunistic fungal infections .These infections can be cutaneous or systemic. Several fungi have been reported to be the culprits such as Candida spp., Aspergillus spp., C. neoformans, P. carinii, and zygomycetes group of fungi. Cutaneous infections are most commonly caused by Pityriasis (tinea) versicolor, dermatophytes, and candida sp but these days the demtiaceous fungi are becoming more frequently reported .Here we report a case of post renal transplant cutaneous infection caused by dematiaceous fungus belonging to the order Pleosporales

Emphysematous pyelonephritis: disappearing kidneys.

A 51-year-old man with type 2 diabetes mellitus for 10 years and hypertension for 8 years, who was a smoker and an alcoholic, presented with a history of fever, chills, and rigor of 4 days; abdominal pain and distension of 3 days; jaundice and anuria of 1 day duration. He had been binge drinking for 2 days before admission and had not taken insulin for several days. Examination revealed jaundice, tachypnea, tachycardia, a blood pressure of 90/70 mm Hg, and diffuse abdominal tenderness, with no guarding or rigidity. Investigations showed the following results: random blood glucose, 385 mg/dl; serum creatinine, 8.5 mg/dl; blood urea, 185 mg/dl; serum sodium, 142 mEq/l; serum potassium, 5.5 mEq/l; serum bilirubin, 8.0 mg/dl; hemoglobin, 13.5 g/dl; total leukocyte count, 30,800/μL; platelet count, 85,000/μL; and urine and blood cultures, sterile. Ultrasound abdomen showed multiple gas shadows in both the kidneys. Computerized tomography scan of the abdomen (Figure 1 and Supplementary Figure S1 online) revealed that the major parts of kidneys were replaced by gas, with only shreds of renal tissue visible. On the same day, bilateral ultrasound-guided percutaneous drainages were placed (Supplementary Figure S2 online). The pus revealed the growth of Escherichia coli. He was treated with pipercillin–tazobactum and aztreonam for 3 weeks. There was improvement in fever and hypotension. However, he remained dialysis dependent.

Renal infarction due to lupus vasculopathy

In the ISN/RPS 2003 classification of lupus nephritis (LN) renal vascular lesions are not mentioned. We present a patient with postpartum lupus vasculopathy. The renal biopsy in our patient showed concentric intimal thickening with narrowed lumen. No inflammatory changes were found. It also revealed immunoglobulin and complement deposition on the wall of the arteriole. These changes indicate lupus vasculopathy. The glomeruli revealed diffuse proliferative glomerulonephritis, with wire loops and cellular crescent in one glomerulus. The patient showed improvement with immunosuppression.

Management of Guillain-Barré syndrome with plasmapheresis or immunoglobulin: our experience from a tertiary care institute in South India.

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.

Membranoproliferative glomerulonephritis and Pott's disease

The reports of glomerular lesions of kidney due to tuberculosis are sparse. A 48-year-old gentleman, presented with swelling of feet of 3 months duration. As he had renal impairment, proteinuria and normal-sized kidneys, he was subjected to renal biopsy. The light microscopy and immunofluorescence revealed the diagnosis was membrano-proliferative glomerulonephritis. During hospital stay, the patient complained fever and stiffness at thoracic spine. The MRI of thoraco-lumbo-sacral spine revealed paravertebral abscess at D11–D12. The pus aspirated was positive for Mycobacterium tuberculosis. He was started on anti-tuberculous medication. After 8 weeks of therapy, the serum creatinine was 1.5 mg/dL and 24 h urine protein 250 mg.

Amelogenesis imperfecta and nephrocalcinosis syndrome

An 18-year-old boy presented with pain in left flank of 2 days duration. He had no history of oliguria, dysuria, pyuria, hematuria, graveluria or swelling of feet or face. Examination revealed yellow colored teeth. The labial surfaces of lower teeth showed irregular horizontal enamel defects [Figure 1]. Rest of the general and systemic examination was unremarkable. Ultrasound abdomen revealed bilateral nephrocalcinosis. It was confirmed on a computed tomography [Figure 2]. The other investigations showed serum creatinine to be 0.9 mg/dl, blood urea 24 mg/dl, sodium 138 meEq/l, potassium 4.5 mEq/l, calcium 9.2 mg/dl, inorganic phosphate 3.2 mg/dl, alkaline phosphatase 180 IU/l, parathormone 69 pg/ml, vitamin D 25 ng/ml, bicarbonate 24 mmol/l and urine pH: 5.5. His parents’ marriage was a consanguineous one. His elder brother and father also had yellow colored teeth. He was diagnosed amelogenesis imperfecta (AI) of hypoplastic type with nephrocalcinosis syndrome.

Epitrochlear mass in a patient on maintenance hemodialysis—Kimura disease

Kimura disease is a rare benign inflammatory disorder presenting as subcutaneous masses or lymphnodal mass in the cervical region. Kimura disease is reported sparsely in patients on maintenance hemodialysis. We report an unusual location of Kimura disease in a patient on maintenance hemodialysis, who had a prolonged, persistent asymptomatic eosinophilia.

Acute Kidney Injury Due to Emphysematous Pyelonephritis on a Horseshoe Kidney

Emphysematous pyelonephritis (EPN) in association with horseshoe kidney is a rare observation. The review of literature revealed only a single report of this nature.1 Keeping this in view, we describe a diabetic patient who was found to have EPN in horseshoe kidney. Horseshoe kidney is a renal fusion anomaly with male predominance and prevalence being 1 in 400 births. In this anomaly the kidneys are connected by a parenchymatous or fibrous isthmus that crosses the midline. Embryologically the abnormality originates between the fourth and sixth weeks of gestation when the inferior portion of the metanephric blastema fuses before the ascent and rotation of the kidneys. The isthmus of the fused tissue encroaches on the inferior mesenteric artery, preventing further migration of the kidneys. In imaging the features of horseshoe kidney include caudal renal position, malrotation with reversed longitudinal axis of each kidney, and anterior extra renal pelvis. Horseshoe kidney is associated with an increased rate of infection, obstruction, stone formation, and renal tumors.2