Bone is a dynamic organ constantly remodeled to support calcium homeostasis and
structural needs. The osteoclast is the cell responsible for removing both the organic and …

Proximal renal tubular acidosis (RTA)(Type II RTA) is characterized by a defect in the ability
to reabsorb HCO3 in the proximal tubule. This is usually manifested as bicarbonate wastage …

Abstract The last International Classification of Constitutional Disorders of Bone was
published in 1998. Since then rapid advances have been made in identifying the molecular …

The rare bone thickening disease osteopetrosis occurs in various forms, one of which is
accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel syndrome …

The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …

Brain calcinosis syndrome (BCS) usually is defined as bilateral calcium accumulation in the
brain parenchyma, primarily in the basal ganglia. More than 50 reported clinical conditions …

▪ Abstract The primary or hereditary form of distal renal tubular acidosis (dRTA), although
rare, has received increased attention recently because of dramatic advances in the …

Brain calcification is a common neuroimaging finding in patients with neurological,
metabolic, or developmental disorders, mitochondrial diseases, infectious diseases …

Carbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-
base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of …

Abstract Carbonic anhydrase 2 (CA2) enzyme deficiency caused by CA2 gene mutations is
an inherited disorder characterized by symptoms like osteopetrosis, renal tubular acidosis …