Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H<sup>+</sup>-K<sup>+</sup>-ATPase deficiency

Simpson, A M; Schwartz, George J.

doi:10.1136/adc.84.6.504

Cited by 20 publications

(7 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This is consistent with the present observation that both isoforms are active in the kidney and suggests that one isoform may compensate for the absence of the other. Although an impaired renal phenotype has not been previously reported in these mice, the possible involvement of the H-K-ATPase in distal renal tubular acidosis with hypokalemia in humans has been proposed (26,31). No significant effect of renal HK␣ 1 or HK␣ 2 knockout on whole animal K homeostasis was observed, but in each case these animals had another intact HK␣ isoform.…”

Section: Discussionmentioning

confidence: 91%

Impaired acid secretion in cortical collecting duct intercalated cells from H-K-ATPase-deficient mice: role of HKα isoforms

Lynch¹,

Rudin²,

Xia³

et al. 2008

American Journal of Physiology-Renal Physiology

View full text Add to dashboard Cite

Two classes of H pumps, H-K-ATPase and H-ATPase, contribute to luminal acidification and HCO(3) transport in the collecting duct (CD). At least two H-K-ATPase alpha-subunits are expressed in the CD: HKalpha(1) and HKalpha(2). Both exhibit K dependence but have different inhibitor sensitivities. The HKalpha(1) H-K-ATPase is Sch-28080 sensitive, whereas the pharmacological profile of the HKalpha(2) H-K-ATPase is not completely understood. The present study used a nonpharmacological, genetic approach to determine the contribution of HKalpha(1) and HKalpha(2) to cortical CD (CCD) intercalated cell (IC) proton transport in mice fed a normal diet. Intracellular pH (pH(i)) recovery was determined in ICs using in vitro microperfusion of CCD after an acute intracellular acid load in wild-type mice and mice of the same strain lacking expression of HKalpha(1), HKalpha(2), or both H-K-ATPases (HKalpha(1,2)). A-type and B-type ICs were differentiated by luminal loading with BCECF-AM and peritubular chloride removal from CO(2)/HCO(3)-buffered solutions to identify the membrane locations of Cl/HCO(3) exchange activity. H-ATPase- and Na/H exchange-mediated H transport were inhibited with bafilomycin A(1) (100 nM) and EIPA (10 microM), respectively. Here, we report 1) initial pH(i) and buffering capacity were not significantly altered in the ICs of HKalpha-deficient mice, 2) either HKalpha(1) or HKalpha(2) deficiency resulted in slower acid extrusion, and 3) A-type ICs from HKalpha(1,2)-deficient mice had significantly slower acid extrusion compared with A-type ICs from HKalpha(1)-deficient mice alone. These studies are the first nonpharmacological demonstration that both HKalpha(1) and HKalpha(2) contribute to H secretion in both A-type and B-type ICs in animals fed a normal diet.

show abstract

Section: Discussionmentioning

confidence: 91%

Impaired acid secretion in cortical collecting duct intercalated cells from H-K-ATPase-deficient mice: role of HKα isoforms

Lynch¹,

Rudin²,

Xia³

et al. 2008

American Journal of Physiology-Renal Physiology

View full text Add to dashboard Cite

show abstract

“…Vanadate is present in high concentration in the soil in parts of the Far East, which may go some way to explaining the prevalence of dRTA there (61). A single infant was recently reported who presented with severe hypokalemic dRTA together with hypomagnesemia and normal gastric pH (62). The authors postulated that an H ϩ K ϩ -ATPase defect could explain the phenotype, but as yet, no human renal disorders of this type have been molecularly characterized.…”

Section: Inherited Mixed Rta (Type 3; Mim #259730)mentioning

confidence: 99%

Inherited Distal Renal Tubular Acidosis

Karet¹

2002

Journal of the American Society of Nephrology

177

142

View full text Add to dashboard Cite

“… 6 There is a case report of a child with profound hypokalemia that was assumed to have a defect in H + , K + -ATPase function. 7 There is a distinct form of endemic distal RTA that occurs in Thailand, especially in the summer. Possible causes include dietary potassium deprivation coupled with a high insensible loss of potassium from sweat or as a result of environmental vanadate intoxication.…”

Section: Discussionmentioning

confidence: 99%

Acute-onset paralysis in a patient of rheumatoid arthritis

Varshney

Prasad

Kumar

et al. 2015

Annals of Saudi Medicine

View full text Add to dashboard Cite

Renal tubular acidosis (RTA) is a disorder of renal acidification characterized by inability to acidify urine to pH <5.5 despite the presence of severe systemic metabolic acidosis and hypokalemia. Hypokalemia leads to acute-onset paralysis and may be a presenting manifestation of RTA. Its association with various autoimmune disease has been reported previously in published reports, but has not been much emphasized. We, hereby, report a case of RTA that presented during the flare of rheumatoid arthritis (RA). A 42-year-old female, a known case of RA for 5 years, presented with persistent joint pain for 1 week and acute-onset quadriparesis for 3 days. Primary investigations revealed hypokalemia with metabolic acidosis. She was managed conservatively with potassium supplements and bicarbonate supplements along with steroids and disease-modifying anti-rheumatic drugs. Such a presentation of renal tubular acidosis in a patient during the flare of rheumatoid arthritis is distinctly rare and previously unreported in published studies.

show abstract

Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H⁺-K⁺-ATPase deficiency

Cited by 20 publications

References 27 publications

Impaired acid secretion in cortical collecting duct intercalated cells from H-K-ATPase-deficient mice: role of HKα isoforms

Impaired acid secretion in cortical collecting duct intercalated cells from H-K-ATPase-deficient mice: role of HKα isoforms

Inherited Distal Renal Tubular Acidosis

Acute-onset paralysis in a patient of rheumatoid arthritis

Contact Info

Product

Resources

About

Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H+-K+-ATPase deficiency

Cited by 20 publications

References 27 publications

Impaired acid secretion in cortical collecting duct intercalated cells from H-K-ATPase-deficient mice: role of HKα isoforms

Impaired acid secretion in cortical collecting duct intercalated cells from H-K-ATPase-deficient mice: role of HKα isoforms

Inherited Distal Renal Tubular Acidosis

Acute-onset paralysis in a patient of rheumatoid arthritis

Contact Info

Product

Resources

About

Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H⁺-K⁺-ATPase deficiency