Abstract:
Background: Familial distal renal tubular acidosis (dRTA) associated with mutations of solute carrier family 4
membrane − 1 (SLC4A1) gene could co-exist with red cell membrane abnormality, Southeast Asian ovalocytosis (SAO).
Although this association is well described in Southeast Asian countries, it is less frequently found in Sri Lanka.
Case presentation: We describe six patients who had dRTA co-existing with SAO. All of them initially presented with
severe hypokalemia and paralysis. They presented within a period of six months to the Teaching Hospital
Anuradhapura, Sri Lanka.
All had metabolic acidosis indicated by low serum bicarbonate. Three of them were having underlying chronic kidney
disease as well. Those three patients had mixed high and normal anion gap metabolic acidosis indicated by low delta
ratio. In all dRTA was confirmed by presence of normal anion gap, hyperchloraemia, high urine pH and positive urine
anion gap.
Examination of blood films of all of them revealed presence of stomatocytes and macro-ovalocytosis compatible with
SAO.
In relation to complications of dRTA, two patients had medullary nephrocalcinosis. Three patients had biochemical
evidence of osteomalacia, with two of them having radiological evidence of diffuse osteosclerosis. One patient had
secondary hyperparathyroidism and a pathological fracture.
Conclusions: Erythrocyte in SAO is exceptionally rigid and this abnormality is said to be evolved as it protects against
Plasmodium vivax malaria and cerebral malaria cause by Plasmodium falciparum. Although two families of SAO was
described earlier, SAO and dRTA combination was reported only once in a patient from Anuradhapura district.
Distal renal tubular acidosis, SAO combination and its related complications including nephrocalcinosis, chronic kidney
disease and metabolic bone disease was not described in Sri-Lankan literature. This case series emphasize the
importance of investigating recurrent/ chronic hypokalemia to diagnose dRTA and its associations, as early correction
of acidosis could prevent development of chronic kidney disease and metabolic bone disease.
