A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.

A 39-year-old male was incidentally detected to have hypertension and chronic kidney disease (CKD) with left solitary functioning kidney in 2017. He has bilateral sensorineural hearing loss since adolescence. He was initially suspected to have adynamic bone disease in view of low parathyroid hormone levels and was started on teriparatide injections and calcium supplements. Despite all these measures, he had persistent hypocalcemia and low parathyroid hormone levels. Hence, Hypoparathyroidism, Deafness, and Renal dysplasia (HDR) syndrome was suspected, and the patient was evaluated for the same. Genetic analysis revealed the presence of a de novo and a novel frameshift mutation in GATA-binding protein 3 (GATA3) gene on chromosome 10p. To the best of our knowledge, this is the first case report of HDR syndrome being diagnosed by genetic analysis in India.

Effect of Educational Intervention on Knowledge and Level of Adherence among Hemodialysis Patients: A Randomized Controlled Trial.

Purpose: The purpose of the study was to assess the impact of an educational intervention on the level of knowledge and adherence to the treatment regimen among hemodialysis (HD) patients as well as to describe the association between these variables. Methods: In this randomized controlled trial, 160 HD patients at an HD centre of a 2030-bed tertiary teaching hospital in Southern India were randomly assigned into intervention (N = 80, received education and a booklet) and control (N = 80, received standard care) groups. Knowledge and adherence were measured preintervention and postintervention using a validated questionnaire for knowledge and the ESRD-AQ (End-Stage Renal Disease Questionnaire) for the level of adherence. The statistical analysis of the data was performed with the help of the Statistical Program SPSS version 19.0. The statistical significance level was set at 0.05. Results: The increase in knowledge on disease management, fluid adherence, and dietary adherence in the intervention group was significantly higher compared to the control group. There was no significant correlation between knowledge and adherence. Adherence improved for all the domains, i.e., dialysis attendance, episodes of shortening, adherence to medication, fluid restriction, and dietary restriction. Adherence to fluid and dietary restriction was statistically significant. This trail is registered with https://clinicaltrials.gov/ct2/show/CTRI/2018/05/014166.

Type III collagen disorders: A case report and review of literature.

Collagen type III is a normal component of interstitium and blood vessels. Collagenofibrotic glomerulopathy (CG) and nail patella syndrome (NPS) are the diseases of abnormal type III collagen deposition. In spite of these curved frayed structures with a periodicity of 45-60 nm are deposited in subendothelium and mesangium in CG, they are found only in the basement membrane in NPS. The clinical features of CG are confined to the kidney, NPS has associated extra-renal manifestations. Electron microscopy is essential to make the renal diagnosis in both these rare diseases. Both the entities considered to be systemic diseases evidence to suggest similar deposition in other organs, understanding etiopathogenesis and disease progression await research.

Crystalloid glomerulopathy in monoclonal gammopathy of renal significance (MGRS).

We report a case of monoclonal gammopathy of renal significance in a 63-year-old man who presented with nephrotic-range proteinuria and renal insufficiency. The kidney biopsy showed a membranoproliferative glomerulonephritis pattern with extensive crystalloid deposits in the glomerular capillary endothelial cells and very few in the tubular epithelial cells. The immunoperoxidase staining showed kappa light chain restriction. Subsequently, the bone marrow showed 6% plasma cells which confirmed the diagnosis of monoclonal gammopathy of renal significance. He responded well to bortezomib treatment with resolution of the nephrotic syndrome and normalization of renal function after 7 months.

Quantitation and characterization of glutathionyl haemoglobin as an oxidative stress marker in chronic renal failure by mass spectrometry.

OBJECTIVES: Glutathionyl haemoglobin (GS-Hb) belonging to the class of glutathionylated proteins has been investigated as a possible marker of oxidative stress in different chronic diseases. The purpose of this study was to examine whether glutathionyl haemoglobin can serve as an oxidative stress marker in non-diabetic chronic renal failure patients on different renal replacement therapies (RRT) through its quantitation, and characterization of the specific binding site of glutathione in haemoglobin molecule by mass spectrometric analysis. DESIGN AND METHODS: The study group consisted of non-diabetic chronic renal failure patients on renal replacement therapy (RRT): hemodialysis (HD), continuous ambulatory peritoneal dialysis (CAPD) and renal allograft transplant (Txp) patients. Haemoglobin samples of these subjects were analyzed by liquid chromatography electrospray ionization mass spectrometry for GS-Hb quantitation. Characterization of GS-Hb was done by tandem mass spectrometry. Levels of erythrocyte glutathione (GSH) and lipid peroxidation (as thiobarbituric acid reacting substances) were measured spectrophotometrically, while glycated haemoglobin (HbA1c) was measured by HPLC. RESULTS: GS-Hb levels were markedly elevated in the dialysis group and marginally in the transplant group as compared to the controls. GS-Hb levels correlated positively with lipid peroxidation and negatively with the erythrocyte glutathione levels in RRT groups indicating enhanced oxidative stress. De novo sequencing of the chymotryptic fragment of GS-Hb established that glutathione is attached to Cys-93 of the beta globin chain. Mass spectrometric quantitation of total glycated haemoglobin showed good agreement with HbA1c estimation by conventional HPLC method. CONCLUSIONS: Glutathionyl haemoglobin can serve as a clinical marker of oxidative stress in chronic debilitating therapies like RRT. Mass spectrometry provides a reliable analytical tool for quantitation and residue level characterization of different post-translational modifications of haemoglobin.