Publications by authors named "Carolyn Griffith"

Article Synopsis
  • Mutations in the ATP6V1B1 gene, particularly the p.E161K SNP, are linked to a condition called distal renal tubular acidosis (dRTA) that affects how kidneys acidify urine.
  • In a study of 555 kidney stone patients, carriers of the p.E161K SNP showed a tendency for higher urinary pH levels, especially under low-calcium and low-sodium diets, indicating issues with urine acidification.
  • The presence of this SNP was associated with a higher likelihood of developing calcium phosphate kidney stones and showed that many carriers had incomplete dRTA symptoms, suggesting a milder form of the condition.
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Background: αKlotho is the prototypic member of the Klotho family and is most highly expressed in the kidney. αKlotho has pleiotropic biologic effects, and in the kidney, its actions include regulation of ion transport, cytoprotection, anti-oxidation and anti-fibrosis. In rodent models of chronic kidney disease (CKD), αKlotho deficiency has been shown to be an early biomarker as well as a pathogenic factor.

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Congenital distal renal tubular acidosis (RTA) from mutations of the B1 subunit of V-ATPase is considered an autosomal recessive disease. We analyzed a distal RTA kindred with a truncation mutation of B1 (p.Phe468fsX487) previously shown to have failure of assembly into the V1 domain of V-ATPase.

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Background: Patients undergoing Roux-en-Y gastric bypass (RYGB) surgery are prone to developing bone loss and kidney stones. The goal of the present study was to test the hypothesis that an effervescent formulation of potassium calcium citrate (PCC) would avert metabolic complications by providing bioavailable calcium and alkali.

Methods: A total of 24 patients with RYGB underwent a 2-phase crossover randomized trial comparing PCC and placebo.

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Soft-tissue calcification is a prominent feature in both chronic kidney disease (CKD) and experimental Klotho deficiency, but whether Klotho deficiency is responsible for the calcification in CKD is unknown. Here, wild-type mice with CKD had very low renal, plasma, and urinary levels of Klotho. In humans, we observed a graded reduction in urinary Klotho starting at an early stage of CKD and progressing with loss of renal function.

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Purpose: We evaluated the effect of calcium citrate supplementation alone or in combination with potassium citrate on the stone forming propensity in healthy postmenopausal women.

Materials And Methods: A total of 18 postmenopausal women without stones underwent a randomized trial of 4 phases comprised of 2 weeks of treatment with placebo, calcium citrate (400 mg calcium twice daily), potassium citrate (20 mEq twice daily), and calcium citrate and potassium citrate (at same doses). During the last 2 days of each phase urine was collected in 24-hour pools for complete stone risk analysis.

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