更新于：2024-11-01

Hyperuricosuria

高尿酸尿症

更新于：2024-11-01

基本信息

别名-

简介-

关联

枸橼酸钾/枸橼酸钠

靶点-

作用机制-

在研机构

Zensei Pharmaceutical Industries Co., Ltd. [+2]

原研机构

Madaus GmbH

在研适应症

痛风 [+3]

非在研适应症-

最高研发阶段批准上市

首次获批国家/地区

日本

首次获批日期1992-03-03

HY1007

靶点-

作用机制-

在研机构

武汉禾元生物科技股份有限公司

原研机构

武汉禾元生物科技股份有限公司

在研适应症

高尿酸尿症

非在研适应症-

最高研发阶段药物发现

首次获批国家/地区-

首次获批日期1800-01-20

100 项与高尿酸尿症相关的临床结果

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100 项与高尿酸尿症相关的转化医学

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0 项与高尿酸尿症相关的专利（医药）

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511

项与高尿酸尿症相关的文献（医药）

2024-12-31·Renal Failure

Rare renal proximal tubular dysfunctions in primary biliary cholangitis

Article

作者: Ye, Wenling ; Qin, Yan ; Wen, Yubing ; Chen, Limeng ; Ye, Wei ; Li, Xuemei ; Zhang, Fengchun ; Zheng, Ke ; Guo, Tianchen ; Shi, Xiaoxiao

INTRODUCTIONRenal involvement of primary biliary cholangitis (PBC) usually presents as distal renal tubular acidosis. Proximal tubular (PT) dysfunctions in PBC were rarely reported with unclear clinicopathological characteristics and renal prognosis.METHODSWe identified 11 cases of PBC with PT dysfunctions (PBC-PT). Their medical document, kidney pathology, and follow-up data were retrospectively reviewed and analyzed.RESULTSThe 11 PBC-PT patients were mainly middle-aged (57.8 ± 5.2 years) females (81.8%). Most of them were asymptomatic PBC (7, 63.6%) with a high prevalence of elevated serum immunoglobulin M (IgM, 81.8%) and G (IgG, 54.5%) levels. In the kidney, they had a mean estimated glomerular filtration rate (eGFR) level of 46.54 ± 23.03 ml/min/1.73m², and 81.8% of them had eGFR below 60 ml/min/1.73m². They showed different degrees of PT dysfunctions, including hyperuricosuria, hypouricemia, normoglycemic glycosuria, generalized aminoaciduria, hyperphosphaturia, and hypophosphatemia. Their kidney pathology showed tubulointerstitial nephritis with lymphoplasmacytic infiltrates, brush border defects, and proximal tubulitis. After glucocorticoids treatment, the PT dysfunctions manifesting as hypophosphatemia, hypouricemia, and renal glycosuria all recovered, and the eGFR levels were improved from 43.24 ± 19.60 ml/min/1.73m² to 55.02 ± 21.14 ml/min/1.73m² (p = 0.028), accompanied by significant improvements of serum IgM levels (from 5.97 ± 4.55 g/L to 2.09 ± 1.48 g/L, p = 0.019).CONCLUSIONSThe PT dysfunctions were rare in PBC patients, and glucocorticoids treatment could benefit the improvements of eGFR and tubular functions.

2024-07-01·American Journal of Kidney Diseases

Real-World Effectiveness of Preventive Pharmacological Therapy in Patients With Urolithiasis: A Retrospective Cohort Study

Article

作者: Krampe, Noah ; Crivelli, Joseph J ; Oerline, Mary K ; Shahinian, Vahakn B ; Asplin, John R ; Hsi, Ryan S ; Hollingsworth, John M

RATIONALE & OBJECTIVEData supporting the efficacy of preventive pharmacological therapy (PPT) to reduce urolithiasis recurrence are based on clinical trials with composite outcomes that incorporate imaging findings and have uncertain clinical significance. This study evaluated whether the use of PPT leads to fewer symptomatic stone events.STUDY DESIGNRetrospective cohort study.SETTING & PARTICIPANTSMedicare enrollees with urolithiasis who completed 24-hour urine collections that revealed hypercalciuria, hypocitraturia, low urine pH, or hyperuricosuria.EXPOSUREPPT (thiazide diuretics for hypercalciuria, alkali for hypocitraturia or low urine pH, or uric acid lowering drugs for hyperuricosuria) categorized as (1) adherent to guideline-concordant PPT, (2) nonadherent to guideline-concordant PPT, or (3) untreated.OUTCOMESymptomatic stone event occurrence (emergency department [ED] visit or hospitalization for urolithiasis or stone-directed surgery).ANALYTICAL APPROACHCox proportional hazards regression.RESULTSAmong 13,942 patients, 31.0% were prescribed PPT. Compared with no treatment, concordant/adherent PPT use was associated with a significantly lower hazard of symptomatic stone events for patients with hypercalciuria (HR, 0.736 [95% CI, 0.593-0.915]) and low urine pH (HR, 0.804 [95% CI, 0.650-0.996]) but not for patients with hypocitraturia or hyperuricosuria. These associations were largely driven by significantly lower rates of ED visits after initiating PPT among the concordant/adherent group versus untreated patients. Patients with hypercalciuria had adjusted 2-year predicted probabilities of a visit of 3.8% [95% CI, 2.5%-5.2%%] and 6.9% [95% CI, 6.0%-7.7%] for the concordant/adherent PPT and no-treatment groups, respectively. Among patients with low urine pH, these probabilities were 4.3% (95% CI, 2.9%-5.7%) and 7.3% (95% CI, 6.5%-8.0%) for the concordant/adherent PPT and no-treatment groups, respectively.LIMITATIONSPotential bias from the possibility that patients prescribed PPT had more severe disease than untreated patients.CONCLUSIONSPatients with urolithiasis and hypercalciuria who were adherent to treatment with thiazide diuretics as well as those with low urine pH adherent to prescribed alkali therapy had fewer symptomatic stone events than untreated patients.PLAIN-LANGUAGE SUMMARYDespite multiple clinical trials demonstrating the efficacy of thiazide diuretics and alkali for secondary prevention of kidney stones, they are infrequently prescribed due in part to a lack of data about their effectiveness in real-world settings. We analyzed medical claims from older adults with kidney stones for whom urine chemistry data were available. We found that patients who took prescribed thiazide diuretics for elevated urine calcium levels or alkali for low urinary pH were less likely to experience symptomatic stone recurrences than untreated patients. This benefit was expressed as lower rates of emergency department visits after initiating therapy. Our findings should inform the prescription of and adherence to treatment with thiazide diuretics and alkali for the prevention of recurrent kidney stones.

2024-07-01·Endocrinology, Diabetes & Metabolism Case Reports

A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria

Article

作者: Inthasot, Saohoine ; Janssens, Peter ; Kint, Cyrielle ; Vanderhulst, Julien ; Van Hoof, Evelien ; de Filette, Jeroen ; Van Daele, Sien ; Iconaru, Laura

SummaryFamilial renal glucosuria (FRG) is a rare renal tubular disorder characterized by increased urinary glucose excretion despite normoglycemia. It is most commonly caused by pathogenic variants in the solute carrier family V member 2 (SLC5A2) gene. This gene encodes the sodium–glucose cotransporter 2, crucial for glucose reabsorption. We report the case of a 44-year-old male referred to the endocrinology outpatient clinic for unexplained glucosuria despite well-controlled diabetes mellitus with metformin and gliclazide therapy. His main complaints were nocturia and an unintentional 5 kg weight loss in 1 year. A 24-h urinary collection revealed overt glucosuria (23.3 g/1.73 m2/24 h), generalized aminoaciduria, and increased uric acid excretion (fractional excretion: 6.4%). Whole-exome sequencing revealed a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene. Specific analysis of the maturity-onset diabetes of the young type (MODY) gene panel showed no pathogenic variants in the hepatocyte nuclear factor-1A (HNF-1A; MODY3) nor in other MODY-associated genes. We assume that the association of glucosuria, aminoaciduria, and increased uric acid excretion can be explained by the combination of diabetes and the likely pathogenic SLC5A2 variant in this patient. In conclusion, we describe a well-controlled diabetic patient with FRG, associated with a novel heterozygous c.469-1G>A likely pathogenic variant in the SLC5A2 gene.Learning points

The diagnosis of a renal tubular disorder should be considered in patients with unexplained glucosuria and diabetes mellitus, especially if the latter is well controlled.

FRG usually presents with glucosuria but may be associated with generalized aminoaciduria and hyperuricosuria.

Genetic analysis should be considered in patients with young-onset diabetes and glucosuria, particularly with a positive family history.