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PubMed2026

Genotype-Informed Characterization of Mild Renal Hypouricemia.

INTRODUCTION: Renal hypouricemia is caused by pathogenic variants in SLC22A12 and SLC2A9. Current diagnostic thresholds based on serum uric acid (UA) (SUA < 2 mg/dl) and fractional excretion of UA (FEUA > 10%) may overlook individuals with monoallelic variants and mild hypouricemia, whose clinical implications remain incompletely defined. This study evaluated genotype-phenotype correlations across individuals with 0, 1, or 2 pathogenic alleles in a referral-based genetic testing cohort from Galicia (Western Europe). METHODS: We analyzed probands referred for suspected renal hypouricemia, their relatives, and additional carriers not previously suspected of the condition. Genetic, biochemical, and clinical data were integrated to characterize SUA and FEUA distributions by genotype and to identify overlooked cases. RESULTS: Among 21 probands, 15 carried pathogenic or likely pathogenic variants (71% diagnostic yield), including 3 variants not previously linked to renal hypouricemia. Monoallelic carriers frequently showed mild hypouricemia (SUA: 2-3.3 mg/dl), whereas biallelic carriers had SUA < 2 mg/dl. SUA and FEUA showed an allele-dose pattern, although FEUA availability was limited. Additional carriers identified outside renal hypouricemia suspicion had compatible biochemical profiles when data were available, suggesting underrecognition in clinical practice. CONCLUSION: In this referral-based cohort, monoallelic pathogenic or likely pathogenic variants in SLC22A12 and SLC2A9 were frequently associated with mild hypouricemia, supporting FEUA assessment and follow-up when low SUA is persistent or clinically suggestive. Current diagnostic thresholds may miss some of these individuals, supporting genotype-informed refinement of serum urate criteria to improve detection and monitoring.

SLC22A12↗
PubMed1979

Inborn hypouricemia due to isolated renal tubular defect.

Inborn hypouricemia due to isolated renal tubular defect is a rare disorder. Thus far eight documented families with this condition have been reported. In reviewing the data on these families, hyperuricosuria was found to be a constant associate of the hypouricemia, and hypercalciuria, mainly of the absorptive type, was frequently associated. Urolithiasis appears to be common. The mode of inheritance of this hypouricemia was autosomal, probably recessive. The magnitude of renal urate clearance and the effects on it of probenecid and pyrazinamide suggest the inborn renal hypouricemia to be of two types, due to defective re-secretory tubular urate reabsorption and to total defective tubular urate reabsorption. The question of the renal tubular abnormality for urate transport being the primary defect or secondary to an abnormal metabolite is discussed.

Adult↗
PubMed1978

Familial hypouricemia due to isolated renal tubular abnormality.

A family with genetic hypouricemia due to isolated renal tubular abnormality in urate handling is reported. Urinary urate excretion was decreased by 61% following administration of pyrazinamide, and increased by 25% following administration of probenecid. The response to these drug suggest genotype heterogeneity of renal hypouricemia in man.

Chromosome Aberrations↗
PubMed1977

Renal urate excretion in five cases of hypouricemia with an isolated renal defect of urate transport.

Renal urate excretion was studied in two familial, one suspected familial, and two isolated cases of hypouricemia due to a renal defect. All had very low plasma urate concentrations. In four cases, the urate clearances were approximately the same as the creatinine clearances, and in one case reduced to about one-third. In all cases the urate clearances were minimally diminished by both pyrazinamide and probenecid. This renal response to the drugs is probably due to and isolated tubular defect in the reabsorptive transport mechanism of urate. Following intravenous administration of uric acid, one patient excreted uric acid in the urine more rapidly than a normal subject. In this patient, uric acid secretion from renal tubules was clearly demonstrated during infusion of uric acid. In de novo synthesis of purine, no definite abnormalities were found by incorporation of glycine-15N to uric acid.

Adult↗
PubMed1977

Familial hypouricemia due to isolated renal tubular defect. Attenuated response of uric acid clearance to probenecid and pyrazinamide.

A 37-year-old female was found to have hypouricemia (1.1-1.9 mg%) with markedly increased uric acid clearance (24.7039.5 ml/min). Uric acid excretion was only slightly affected by pyrazinamide, a drug which suppresses renal tubular uric acid secretion, and by probenecid, a drug which inhibits tubular uric acid reabsorption. The attenuated response in this subject to both drugs suggest a renal tubular defect in the proximal high capacity-high affinity uric acid reabsorption mechanism. No other renal tubular or metabolic abnormalities were detected. A survey of the family-three sisters and two brothers, revealed two similarly affected sisters. The abnormality described in this family is defined as familial renal hypouricemia due to an isolated renal tubular defect with attenuated response of uric acid clearance to probenecid and pyrazinamide.

Adult↗
PubMed1976

A case of uric acid renal stone with hypouricemia caused by tubular reabsorptive defect of uric acid.

A 60-year-old man had a uric acid stone in the kidney and laboratory findings of hypouricemia (1.1 mg. per 100 ml.) and increased uric acid clearance (43 ml. per minute per 1.73 m.2). Clearance of uric acid exceeded the endogenous creatinine clearance after administration of pyrazinamide, an inhibitor of renal tubular secretion of uric acid. It was suggested that our patient had a complete defective mechanism for uric acid reabsorption, resulting in hyperuricuria and the formation of the uric acid stone.

Creatinine↗
PubMed1976

Renal transport of urate during diuretic-induced hypouricemia.

The effect of two weeks administration of a uricosuric diuretic (SKF-62698) on renal urate handling has been examined in 11 normal men. Plasma urate concentrations had declined by more than 60 per cent after two weeks. Urate excretion per unit of glomerular filtration rate and urate clearance (Curate) per unit of glomerular filtration rate were increased after the administration of SKF-62698. The importance of intact tubular secretion of urate in producing these changes was assessed by administering pyrazinamide, an agent that curtails urate secretion, to each participant. The decrements in urate excretion and clearance produced by pyrazinamide both increased significantly, whereas the residual urate excretion rates and clearances not suppressible by pyrazinamide were only minimally altered by SKF-62698 treatment. These results suggest that the excretion of secreted urate was enhanced by prolonged administration of SKF-62698, probably secondary to the inhibition of postsecretory urate reabsorption. In addition, because the nonsuppressible urate excretion did not decline despite a 63 per cent reduction in the plasma urate, it is likely that the reabsorption of filtered urate also was impaired by SKF-62698.

Adult↗
PubMedDate not supplied

Hyperuricosuria in the Fanconi syndrome.

A patient with asymptomatic adult Fanconi syndrome with glycosuria, amino-aciduria, hypophosphatemia, and renal tubular acidosis was found to have hypouricemia (serum uric acid, 1.5-1.8 mg/100 ml) secondary to increased renal clearance of urate (urate clearance/glomerular filtration rate, 32 per cent). Increased urate clearance in this patient with multiple reabsorptive defects probably represents diminished urate reabsorption. Consistent with this, the uricosuric response to probenecid was diminished. Reabsorption of filtered urate appeared to be intact. Inhibition of urate secretion with pyrazinamide completely suppressed the uricosuria in this patient, suggesting that increased urate clearance was due to either enhanced secretion or diminished reabsorption of secreted urate. There was no direct evidence for increased urate secretion. The response of urate excretion to pharmacologic inhibitors of tubular transport of urate differs in various clinical states associated with hyperuricosuria. The responses may reflect different mechanisms of hyperuricosuria.

Fanconi Syndrome↗
PubMed1975

Intrinsic renal disease leading to abnormal urate excretion.

Since approximately two thirds of daily urate production is normally excreted by the kidney, intrinsic renal disease resulting in abnormalities of urate excretion may have a profound effect upon urate homeostasis. Alterations in the pattern of urate excretion encountered in chronic renal failure are reviewed in depth, with a description of adaptive mechanisms for urate excretion which develop in residual nephrons, as exemplified by the remaining normal kidney of transplant donors. In addition, abnormalities in urate excretion in the presence of a normal complement of nephrons are described. Diminished urate excretion per nephron appears to be responsible for hyperuricemia in some patients with gout, while a variety of tubular defects resulting in excessive renal urate excretion have been documented as the basis for some cases of hypouricemia.

Acute Kidney Injury↗
PubMed1979

Effect of acute administration of salmon and human calcitonin on blood urate and renal excretion of uric acid in patients with Paget's disease of bone.

The sc injection of salmon calcitonin (CT) (100 MRC U) or human CT (50 MRC U) to Pagetic patients reduces the plasma urate concentration and increases the renal excretion of uric acid. This effect is independent of the natriuretic, phosphaturic, or glycosuric actions of CT and is not due to the transient increment of the glomerular filtration rate noted after CT administration. Our results suggest that the hypouricemia observed during CT treatment is related, at least in part to a direct action on the renal handling of uric acid.

Aged↗
PubMed1977

Hypocalcemia with hypoparathyroidism and renal tubular dysfunction associated with aminoglycoside therapy.

Seventeen patients with malignant disease developed a complex metabolic syndrome of 2-8 weeks' duration characterized by hypocalcemia, hypomagnesemia and hypokalemia following administration of the aminoglycoside group of antibiotics. Gentamicin, Tobramycin, Amikacin, and Sisomicin were all involved. Other features noted were hypoalbuminemia, hypophosphatemia, and hypouricemia. Low immunoreactive parathyroid hormone (i-PTH) levels in the presence of hypocalcemia and absence of hyperplastic changes in the parathyroid gland examined at postmortem confirmed a diagnosis of hypoparathyroidism. Immunoreactive calcitonin levels (i-CT) were not elevated. Renal tubular wasting of potassium and magnesium was documented in six patients and excessive urinary loss of sodium, phosphate, and uric acid was noticed. Twelve patients died before recovering from the metabolic stress and five patients developed progressive renal impairment. A possible potentiating action of chemotherapeutic agents, especially Adriamycin, is suggested.

Adult↗
PubMedDate not supplied

[Three cases of hereditary xanthinuria: review of the literature (author's transl)].

Xanthinuria is a rare hereditary disorder characterized by a gross deficiency of the enzyme xanthine oxydase resulting in hypouricemia, hypouricosuria and increased serum and urinary oxypurines. Three patients with this disease are presented and the pertinent literature is reviewed. We have demonstrated in one subject the absence of xanthine oxydase activity in a renal fragment. Genetic studies were performed but we do not find any relation between this deficiency of enzyme xanthine oxydase and HLA, Pl, Gm groups.

Adolescent↗