Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Normal adults with normal protein intakes have a urinary NH4 excretion of 40 to 50 mmol/24 hours and a variable urinary pH. In cases of metabolic acidosis a urinary pH less than 5.5 suggests an extra-renal origin whilst a urinary pH greater than 5.5 is in favour of renal acidosis, but there are many exceptions to this rule. On the other hand, urinary NH4 excretion is always greater than 70 mmol/24 hours in the first case and less than 40-50 mmol/24 hours in the second; and the use of the urinary anionic gap (Na + K - Cl), negative in the first case and positive in the second, enables the two situations to be distinguished. The acidosis of nephron reduction is easily recognised in cases of severe renal failure with an increase in unmeasured plasma anions whilst tubular acidoses are accompanied by a hyperchloremia. Measurement of fractional HCO3 excretion after an oral loading dose of NaHCO3, preferably by TmCHO3 with respect to GFR, distinguishes proximal tubular acidosis (low TmHCO3) from distal tubular acidosis (normal or high TmHCO3). In the latter case, the presence of hypokalemia suggests a distal tubular acidosis either due to deficiency of the H(+)-ATPase pumps (absence of increased urinary pCO2 after oral loading dose of NaHCO3) or to the inability of the kidney to maintain a normal H+ gradient (normal increase of urinary pCO2. The presence of hyperkalemia suggests diseases associated with hypoaldosteronism (low or inappropriate serum aldosterone concentrations), abnormal transepithelial voltages or with a pseudo-hypoaldosteronism syndrome (high plasma aldosterone concentration). The prevalence of distal tubular acidosis with hyperkalemia is on the increase whilst tubular acidosis with hypokalemia remains rare.
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PMID:[Renal acidosis]. 223 3

Silver seabream (Sparus sarba) held in seawater (33 per thousand) or acclimated to a hypoosmotic environment of 6 per thousand were given intraperitoneal injections of saline (0.8% NaCl), recombinant bream growth hormone (rbGH, 1 microg/g), or ovine prolactin (oPRL, 6microg/g) for 7 consecutive days. Serum Na+ levels were unaffected by hypoosmotic acclimation and rbGH and oPRL treatment. Treatment of seawater fish with oPRL resulted in hyperchloremia. In 6 per thousand, saline-treated fish exhibited elevated branchial chloride cell (CC) numbers and exposure indices, all of which were markedly reduced by oPRL. CC numbers and morphometrics were unaffected by oPRL in seawater fish. In contrast, rbGH treatment of seawater fish resulted in elevated CC numbers, apical area, and fractional area and, in 6 per thousand fish, elevated CC fractional area and exposure numbers. Branchial Na+-K+-ATPase activity reduced in saline-treated fish adapted to 6% but was unaffected by rbGH regardless of salinity. oPRL reduced activity in both seawater and 6 per thousand-adapted fish. Neither hypoosmotic adaptation nor oPRL had any effect on renal Na+-K+-ATPase activity whereas rbGH reduced activity in both 33 and 6 per thousand. Saline-treated fish adapted to 6 per thousand exhibited reduced Na+-K+-ATPase activity in most regions of the intestine. Treatment with rbGH did not change intestinal Na+-K+-ATPase activity of seawater fish but elevated activity in the anterior regions (esophagus and stomach) of 6 per thousand-adapted fish. Treatment with oPRL elevated Na+-K+-ATPase activity throughout the gastrointestinal tract of seawater fish and in the anterior reaches of 6 per thousand-adapted fish. The data indicated that the as yet uncharacterized osmoregulatory roles of PRL and GH in seabream may warrant further attention as the present study connoted differing responses to that of other teleosts studied.
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PMID:Effects of prolactin and growth hormone on strategies of hypoosmotic adaptation in a marine teleost, Sparus sarba. 988 39

Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal acidification due to a failure of type A intercalated cells (A-ICs) in the collecting tubule. dRTA is characterized by persistent hyperchloremia, a normal plasma anion gap, and the inability to maximally lower urinary pH in the presence of systemic metabolic acidosis. Common clinical features of dRTA include vomiting, failure to thrive, polyuria, hypercalciuria, hypocitraturia, nephrocalcinosis, nephrolithiasis, growth delay, and rickets. Mutations in genes encoding three distinct transport proteins in A-ICs have been identified as causes of dRTA, including the B1/ATP6V1B1 and a4/ATP6V0A4 subunits of the vacuolar-type H+-ATPase (H+-ATPase) and the chloride-bicarbonate exchanger AE1/SLC4A1. Homozygous or compound heterozygous mutations in ATP6V1B1 and ATP6V0A4 lead to autosomal recessive (AR) dRTA. dRTA caused by SLC4A1 mutations can occur with either autosomal dominant or AR transmission. Red blood cell abnormalities have been associated with AR dRTA due to SLC4A1 mutations, including hereditary spherocytosis, Southeast Asia ovalocytosis, and others. Some patients with dRTA exhibit atypical clinical features, including transient and reversible proximal tubular dysfunction and hyperammonemia. Incomplete dRTA presents with inadequate urinary acidification, but without spontaneous metabolic acidosis and recurrent urinary stones. Heterozygous mutations in the AE1 or H+-ATPase genes have recently been reported in patients with incomplete dRTA. Early and sufficient doses of alkali treatment are needed for patients with dRTA. Normalized serum bicarbonate, urinary calcium excretion, urinary low-molecular-weight protein levels, and growth rate are good markers of adherence to and/or efficacy of treatment. The prognosis of dRTA is generally good in patients with appropriate treatment. However, recent studies showed an increased frequency of chronic kidney disease (CKD) in patients with dRTA during long-term follow-up. The precise pathogenic mechanisms of CKD in patients with dRTA are unknown.
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PMID:Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. 3058 51