- Male to female ratio is always 1 : 1. Primary RTA usually manifests
clinically between the first and the third decade of life (Fig. 6.1). - Hypokalemia due to defective handling of K+ in distal nephron this
will manifest as muscle weakness even paralysis and may be
complicated by rhabdomyolysis, respiratory arrest or cardiac
arrhythmia. Prolonged hypokalaemia may lead to renal concentration
defect which will manifest as polyuria and nocturia. - Nephrocalcinosis and stone disease that is due to the decreased
solubility of calcium salts (oxalate, carbonate or phosphate) due to
persistently alkaline urine and reduced urinary citrate, Mg and
hypercalcuria (in 50% of congenital and hereditary RTA).
This will result in obstructive uropathy, infection and finally renal
failure. - Osteomalacia with bone pains and fractures. It is due to acidosis and
use of bone as buffer with release of calcium carbonate from bone,
also hypophosphataemia causing hyperparathyroidism and
suppression of activation of vitamin D and hypocalcaemia. - Severe acidaemia will cause tachypnea, dizziness and even coma.
- Severe acidaemia may decrease extracellular fluid volume and GFR.
- Incomplete RTA will manifest only as nephrocalcinosis or as a stone
disease.
joyce
(Joyce)
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