Thelansis

 Distal renal tubular acidosis (dRTA) or RTA type-I comprises a group of disorders in which the excretion of hydrogen ions or reabsorption of filtered HCO3 is impaired, resulting in chronic metabolic acidosis with a standard anion gap. In children affected by dRTA, there is stunted growth, loss of appetite, constipation, vomiting, nephrocalcinosis, polydipsia and polyuria, weakness and muscle paralysis due to hypokalemia. DRTA can be autosomal dominant or autosomal recessive. Autosomal recessive dRTA manifests itself in the first months of life and progresses with nephrocalcinosis and early or late hearing loss. Autosomal dominant dRTA is less severe, occurs during adolescence or adulthood, and may or may not develop nephrocalcinosis. In alpha-intercalated cells of the collecting duct, the acid load is deposited into the urine as titratable acids (phosphates) and ammonium. Mutations in the genes ATP6V1B1, ATP6V0A4, and SLC4A1 cause autosomal recessive dRTA, which encode subunits a4...