The Association of Hereditary Fructose Intolerance and Renal Tubular Acidosis

Mass, Robert E.; Smith, W. R.; Walsh, Jennifer

doi:10.1097/00000441-196605000-00003

Cited by 27 publications

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“…The acidosis in one infant was accompanied by hyperchloremia, but data on urinary acidification was reported in neither. In the one known patient with HFI and persisting renal tubular acidosis, dietary restriction of fructose had no demonstrated effect on the acidification defect (14).…”

Section: Introductionmentioning

confidence: 89%

“…In both disorders similar functional arnd structural abnormalities of the liver and kidney occur, which can be prevented and in some instances reversed by abstention from the specific hexose (17,18,34). In both disorders, persisting RTA, as well as reversible hexoseinduced proteinuria and aminoaciduria of a "nonoverflow" type, has been demonstrated (11,14,18,35,36). In two children with galactosemia, diagnosed just before death, increased amounts of Gal-1-P were measured in both renal and hepatic tissue (37).…”

Section: Introductionmentioning

confidence: 98%

“…The reported evidence that such metabolic disturbances exist in patients with RTA is circumstantial at best. RTA has been reported in association with such metabolic disorders as "glycogenosis" (9), cystinosis (10), galactosemia (11), Wilson's disease (12), Lowe's syndrome (13) and hereditary fructose intolerance (HFI) (14), but the relationship between the underlying metabolic abnormality and the acidification defect is unclear. Only in galactosemia and HFI is the causal biochemical defect known (15,16) and the resultant metabolic abnormality reversible and inducible experimentally (15,17,18).…”

Section: Introductionmentioning

confidence: 99%

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An experimental renal acidification defect in patients with hereditary fructose intolerance

Rc¹

1968

J. Clin. Invest.

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A B S T R A C T In three unrelated patients with hereditary fructose intolerance (HFI), but in none of five normal subjects, the experimental administration of fructose invariably induced a reversible dysfunction of the renal tubule with biochemical and physiological characteristics of renal tubular acidosis. During a state of ammonium chloride-induced acidosis, (a) urinary pH was greater than six and the rate of excretion of net acid (titratable acid plus ammonium minus bicarbonate) was inappropriately low, (b) the glomerular filtration rate remained unchanged or decreased modestly, and (c) urinary excretion of titratable acid increased briskly with diuresis of infused phosphate, although urinary pH changed little. The tubular dysfunction, which also includes impaired tubular reabsorption of alpha amino nitrogen and phosphate, persisted throughout administration of fructose and disappeared afterward. The tubular dysfunction was not causally dependent on hypoglucosemia, ammonium chloride-induced acidosis or osmotic diuresis. Rather, it appeared causally related to the fructose-induced metabolic abnormality of patients with HFI. The causal enzymatic defect, the virtual absence of fructose-i-phosphate aldolase, occurs in the kidney as well as in the liver of patients with HFI.

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Section: Introductionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

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An experimental renal acidification defect in patients with hereditary fructose intolerance

Rc¹

1968

J. Clin. Invest.

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“…Supplementary Table S2 contains a list of genetic causes of secondary proximal tubulopathy with hypercalciuria and NL and/or NC. Conditions that results in a secondary proximal tubulopathy include Hereditary fructose intolerance ( ALDOB gene, AR inheritance ( Higgins and Varney, 1966 ; Mass et al, 1966 ), OMIM phenotype number 229600 ), Wilson disease ( ATP7B gene, AR inheritance, OMIM phenotype number 277900 ) ( Di Stefano et al, 2012 ), Nephropathic cystinosis ( CTNS gene, AR inheritance, OMIM phenotype number 219800 ) ( Theodoropoulos et al, 1995 ), Tyrosinemia type 1 ( FAH gene, AR inheritance, OMIM phenotype number 276700 ) ( Forget et al, 1999 ), Congenital lactase deficiency ( LCT gene, AR inheritance, OMIM phenotype number 223000 ) ( Saarela et al, 1995 ), Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) ( RRM2B gene, AR inheritance, OMIM phenotype number 612075 ) ( Finsterer and Scorza, 2017 ), Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ( TRNT1 gene, AR inheritance, OMIM phenotype number 616084 ) ( Wiseman et al, 2013 ), Arthrogryposis, renal dysfunction, and cholestasis 1 ( VPS33B gene, AR inheritance, OMIM phenotype number 208085 ) ( Holme et al, 2013 ), and Arthrogryposis, renal dysfunction, and cholestasis 2 ( VIPAS39 gene, AR inheritance, OMIM phenotype number 613404 ) ( Holme et al, 2013 ).…”

Section: Genetic Causes Of Nephrolithiasis and Nephrocalcinosis In Ch...mentioning

confidence: 99%

Review of childhood genetic nephrolithiasis and nephrocalcinosis

Gefen,

Zaritsky

2024

Front. Genet.

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Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden. The etiology of NL and NC is multifactorial and includes both environmental components and genetic components, with multiple studies showing high heritability. Causative gene variants have been detected in up to 32% of children with NL and NC. Children with NL and NC are genotypically heterogenous, but often phenotypically relatively homogenous, and there are subsequently little data on the predictors of genetic childhood NL and NC. Most genetic diseases associated with NL and NC are secondary to hypercalciuria, including those secondary to hypercalcemia, renal phosphate wasting, renal magnesium wasting, distal renal tubular acidosis (RTA), proximal tubulopathies, mixed or variable tubulopathies, Bartter syndrome, hyperaldosteronism and pseudohyperaldosteronism, and hyperparathyroidism and hypoparathyroidism. The remaining minority of genetic diseases associated with NL and NC are secondary to hyperoxaluria, cystinuria, hyperuricosuria, xanthinuria, other metabolic disorders, and multifactorial etiologies. Genome-wide association studies (GWAS) in adults have identified multiple polygenic traits associated with NL and NC, often involving genes that are involved in calcium, phosphorus, magnesium, and vitamin D homeostasis. Compared to adults, there is a relative paucity of studies in children with NL and NC. This review aims to focus on the genetic component of NL and NC in children.

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“…Some infants may be able at the age of a few months to convey their distaste to sweet-tasting foods to an intelligent mother and remain healthy even after weaning from breast. Any infant with an enlarged liver and protein-or aminoaciduria is so suspect of dietary restrictions may cause attacks of abhaving HFI that fructose should be excluded " I A (22), polyuria and periodic Or progressive ought not be given to any patient not weakness or paralysis (31) have been reported as results of chronic renal tubular dysfunction positively known to tolerate sugar, and hypokalemia. An enlarged liver is common to all forms of presentation in infancy and childhood, but may not be notable in adults (18).…”

Section: Different Clinical Manifestationsmentioning

confidence: 99%

Hereditary Fructose Intolerance

Perheentupa

Raivio

Nikkilä

1972

Journal of Internal Medicine

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Abstract. The clinical and metabolic aspects of hereditary fructose intolerance (HFI) are reviewed and some new observations on children with HFI are reported. The acute rise in plasma FFA level which was earlier shown to follow an acute exposure to fructose in these patients, was found to be associated with an increase in epinephrine excretion and a decrease in plasma TG level. Abolition of the fructose induced hypoglycemia by an infusion of glucose after injection of fructose prevented the rise in plasma FFA, but did not modify the increase in plasma lactate or urate concentration. Maintaining normal or high plasma inorganic phosphate levels after fructose injection by infusion of phosphate buffer did not alter the fructose‐induced changes in blood glucose or lactate, or in plasma FFA or urate concentration. The hyperuricemia and hyperuricosuria after fructose were larger in HFI patients than in normal children. Administration of fructose in the small doses of 0.33‐1.3 g/kg daily for 3–5 days brought about a gradual fall in plasma cholesterol level, and a rise in the excretion of urate and 17‐ketogenic steroids, but no increase in proteinuria.

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The Association of Hereditary Fructose Intolerance and Renal Tubular Acidosis

Cited by 27 publications

References 0 publications

An experimental renal acidification defect in patients with hereditary fructose intolerance

An experimental renal acidification defect in patients with hereditary fructose intolerance

Review of childhood genetic nephrolithiasis and nephrocalcinosis

Hereditary Fructose Intolerance

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