Disease relevance of Acidosis, Renal Tubular

• These observations demonstrate the generality of the findings that we reported earlier in one family and provide further evidence that a deficiency of carbonic anhydrase II is the enzymatic basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification [1].
• Impaired renal conservation of sodium and chloride during sustained correction of systemic acidosis in patients with type 1, classic renal tubular acidosis [2].
• Mutations in WNK1 and WNK4, genes encoding members of a novel family of serine-threonine kinases, have recently been shown to cause pseudohypoaldosteronism type II (PHAII), an autosomal dominant disorder featuring hypertension, hyperkalemia, and renal tubular acidosis [3].
• These findings demonstrate that mutations in OCRL1 can occur with the isolated renal phenotype of Dent disease in patients lacking the cataracts, renal tubular acidosis, and neurological abnormalities that are characteristic of Lowe syndrome [4].
• Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome [5].

Psychiatry related information on Acidosis, Renal Tubular

• Fourteen Tunisian (Maghrebian) families with a history of osteopetrosis, renal tubular acidosis, mental retardation, and CA II deficiency were studied to test the hypothesis that the mutation, found in all 24 patients, derived from a common ancestor originating in the Arabic Peninsula [6].

High impact information on Acidosis, Renal Tubular

• The importance in final urinary acidification along the collecting system is highlighted by monogenic defects in two subunits (ATP6V0A4, ATP6V1B1) of the vacuolar H(+)-ATPase in patients with distal renal tubular acidosis [7].
• Autosomal dominant distal renal tubular acidosis (ddRTA) is caused by mutations in SLC4A1, which encodes the polytopic chloride-bicarbonate exchanger AE1 that is normally expressed at the basolateral surface of alpha-intercalated cells in the distal nephron [8].
• Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing [9].
• Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities [10].
• Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness [11].

Chemical compound and disease context of Acidosis, Renal Tubular

• Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency [12].
• Thus, these findings support the use of the U-B pCO2 as a reliable means of demonstrating impaired distal nephron proton secretion in secretory and voltage-dependent forms of distal renal tubular acidosis (RTA) and supports the view that proton secretion is not impaired in gradient forms of distal RTA [13].
• Autosomal dominant and recessive distal renal tubular acidosis (dRTA) can be caused by mutations in the anion exchanger 1 (AE1 or SLC4A1) gene, which encodes the erythroid chloride/bicarbonate anion exchanger membrane glycoprotein (eAE1) and a truncated kidney isoform (kAE1) [14].
• In 11 patients with distal renal tubular acidosis (RTA), urinary citrate excretion was subnormal relative to net GI alkali absorption, with data from most patients residing outside the 95% confidence ellipse described for normal subjects [15].
• Hyperkalemic distal renal tubular acidosis and selective aldosterone deficiency. Combination in a patient with lead nephropathy [16].

Biological context of Acidosis, Renal Tubular

• Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis [17].
• In contrast, in patients with reduced bone mineral density incomplete renal tubular acidosis type I (RTA I) was diagnosed in 10 of 46 subjects (22%) by oral ammonium chloride loading test [18].
• The rare adolescent form is characterized by mild renal tubular acidosis, mild to moderate sensorineural hearing loss, and otherwise normal growth and development [19].
• Carbonic anhydrase II (CAII) plays an important role in the acid-base homeostasis of the body and its deficiency results in renal tubular acidosis [20].
• Mice with a targeted disruption of the gene for the forkhead transcription factor Foxi1 display renal tubular acidosis due to an intercalated cell-differentiation defect [21].

Anatomical context of Acidosis, Renal Tubular

• Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency) [22].
• Three major predisposing causes of nephrolithiasis were found in the patient, including hyperparathyroidism, renal tubular acidosis, and urinary tract infection [23].
• Carbonic anhydrase (CA) isoenzyme II deficiency--formerly called the syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification--is an autosomal recessive "inborn error of metabolism" that has disclosed important insight concerning osteoclast function [24].
• Possible association between cell membrane band 3 impairment function and renal tubular acidosis (liver diseases, malignancies and adverse drug reactions) [25].

Gene context of Acidosis, Renal Tubular

• Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1 [26].
• Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger AE1, cause distal renal tubular acidosis (dRTA), a disease of defective urinary acidification by the distal nephron [27].
• Previously we have shown that mutations in two kidney-specific genes, ATP6V1B1 and ATP6V0A4, encoding the H(+)-ATPase B1 and a4 subunit isoforms, cause recessive distal renal tubular acidosis (dRTA) [28].
• Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene [29].
• Methods to evaluate patients with pure proximal renal tubular acidosis for deficiency of CA IV are also discussed [30].

Analytical, diagnostic and therapeutic context of Acidosis, Renal Tubular

• Bicarbonate titration studies were performed on two patients with bicarbonate wasting distal renal tubular acidosis (RTA; patients 1 and 2) and on three patients (3,4, and 5) with classic distal RTA [31].
• This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay [32].
• Antibody to Tamm-Horsfall glycoprotein in the sera of patients with distal renal tubular acidosis (dRTA) was measured by radioimmunoassay, as well as in samples of normal human serum [33].
• On the contrary urinary citrate excretion is a common tool in the differential diagnosis of kidney stones, renal tubular acidosis and it plays also a role in bone diseases [34].

References