Dietary Management in Slowing Down the Progression of CKDu.

Chronic kidney disease of unknown etiology (CKDu) is an emerging entity in the South Asian region. This predominately affects the farming community belonging to the lower socioeconomic status. CKDu being a progressive condition often leads to end-stage renal failurerequiring renal replacement therapy (RRT). Due to the high cost and limited availability of RRT in many areas of geographical locations in India and worldwide, there is an unmet need to slow down the progression of CKDu. The intestinal microbiota is different in patients with CKD, with low levels of beneficial bacteria such as Lactobacillus and Bifidobacteria. Prebiotics and probiotics modify the intestinal microbiota and thereby slow down the progression. Soda bicarbonate therapy is cheap and cost-effective in slowing down the progression of CKDu in a subset of patients. There is also evidence of the beneficial effect of N-acetyl cysteine in early stages of CKD and it should benefit CKDu also. Dietary interventions to prevent dehydration, by providing uncontaminated drinking water, sufficient protein containing diet with adequate calories, and tailored salt intake to prevent hypotension, are necessary compared to other causes of CKD. The objective is to prevent malnutrition, and uremic symptoms. Early diagnosis and prompt intervention may delay the progression of CKDu in the early stages.

A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis.

Homozygous autosomal recessive distal renal tubular acidosis (dRTA) is a rare entity. The intercalated cells in the collecting ducts are defective in apical proton secretion or basolateral bicarbonate reabsorption, due to mutations in genes encoding for proteins in a4 and B1 subunits of the V-ATPase and the anion exchanger Cl-/HCO- (kAE1). This results in decreased ammonium (NH4+) excretion and defective urine acidification. dRTA is characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitranuria, and nephrocalcinosis. Autosomal recessive dRTA is associated with mutation in ATP6V1B1 (2p13) or ATP6V0A4 (7q34) genes. ATP6V1B1 mutation is associated with early - onset sensory neural hearing loss (SNHL), whereas ATP6V0A4 gene mutation may be associated with early-to late-onset SNHL. We report the case of a 30-year-old married woman diagnosed with dRTA at three months of age with mild SNHL, showing homogygous nonsense mutation in exon 3 of the ATP6V0A4 gene that resulted in a stop codon and premature truncation of the protein at codon 6.