pediatrics
Osteosclerosis
Osteopetrosis with renal tubular acidosis
This type of osteopetrosis is Autosomal Recessive . The genetic defect involves mutations of the gene encoding carbonic anhydrase II. Osteopetrosis with renal tubular acidosis causes weakness, stunted stature, and failure to thrive. Bones appear dense on x-rays, and cerebral calcifications are seen; Renal Tubular Acidosis is present, and red blood cell carbonic anhydrase activity is decreased. Hematopoietic stem cell transplantation cures the osteopetrosis but has no effect on the renal tubular acidosis. Maintenance therapy consists of bicarbonate and electrolyte supplementation to correct renal losses. 