Renal tubular acidosis

Most reports focus on diagnosis and the effectiveness of intervention to correct acidosis and associated disorders of potassium balance. There are few studies documenting the long-term impact of treatment on these disorders in adults. In one study of 89 patients with primary distal RTA, 31.3% of patients with pathogenic mutations had chronic kidney disease at long-term follow-up (at least 15 years), with the decline in renal function starting after puberty.[27]Palazzo V, Provenzano A, Becherucci F, et al. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. Kidney Int. 2017 May;91(5):1243-55. http://www.ncbi.nlm.nih.gov/pubmed/28233610?tool=bestpractice.com In another study, data were collected regarding treatment and outcomes in 340 patients with primary distal RTA. It was reported that 35% of children and 82% of adults with primary distal RTA met criteria for chronic kidney disease stage 2 or greater.[53]Lopez-Garcia SC, Emma F, Walsh SB, et al. Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol Dial Transplant. 2019 Jun 1;34(6):981-91. http://www.ncbi.nlm.nih.gov/pubmed/30773598?tool=bestpractice.com

Alkali therapy seems effective in prevention of renal stones and amelioration of nephrocalcinosis in patients with incomplete distal RTA.

Aggressive correction of acidosis has been shown to restore growth in children with proximal RTA but needs to start early to achieve maximal benefit. Treatment of children with classic distal RTA restores growth but has no effect on deafness in people with hereditary distal RTA with deafness.

In hyperkalemic distal RTA the serum potassium can be controlled and acidosis ameliorated, but long-term outcomes have not been studied.

The course and prognosis for Fanconi syndrome depend on the clinical background. When it is linked to an inherited metabolic disease, the course and prognosis of that disorder is the primary issue. In patients whose disease is secondary to drugs or toxin exposure, there is hope for regression of Fanconi syndrome as the kidney heals from injury, and recovery from the syndrome is probable after the toxin is cleared and if further exposure is avoided. In those with proteinuria-associated disease, again the outcome is predominantly influenced by the primary disorder, and recovery is possible if the disorder is controlled. The existing data have not been effectively analyzed with regard to prognosis in any of the cases.