Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI

Kärki, Mari; Näntö‐Salonen, Kirsti; Niinikoski, Harri; Tanner, Laura M.

doi:10.1007/8904_2015_465

Cited by 13 publications

(9 citation statements)

References 33 publications

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“…Hyperammonemia is best explained by functional deficiency of the arginine and ornithine intermediates in hepatocytes ( Rajantie et al, 1983 ). The most severe complications include acute alveolar proteinosis ( Parto et al, 1993 ) or multiorgan failure, hematologic abnormalities like normochromic or hypochromic anemia ( Box 1 ), leukopenia, thrombocytopenia and erythroblastophagocytosis, a clinical presentation resembling the hemophagocytic lymphohistiocytosis and disturbed proximal tubular function with proteinuria, which often progresses to glomerular dysfunction and end-stage renal failure ( Kärki et al, 2016 ; Nicolas et al, 2016 ; Tanner et al, 2007a , b ). Hypercholesterolemia, hypertriglyceridemia and acute pancreatitis may occur.…”

Section: The Fdhmentioning

confidence: 99%

The Finnish genetic heritage in 2022 – from diagnosis to translational research

Uusimaa

Kettunen

Varilo

et al. 2022

Disease Models &Amp; Mechanisms

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Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autosomal-recessive, variants enriched in the population due to several past genetic drift events. Interestingly, distinct subpopulations have remained in Finland and have maintained their unique genetic repertoire. Thus, FDH diseases have persisted, facilitating vigorous research on the underlying molecular mechanisms and development of treatment options. This Review summarizes the current status of FDH, including the most recently discovered FDH disorders, and introduces a set of other recently identified diseases that share common features with the traditional FDH diseases. The Review also discusses a new era for population-based studies, which combine various forms of big data to identify novel genotype–phenotype associations behind more complex conditions, as exemplified here by the FinnGen project. In addition to the pathogenic variants with an unequivocal causative role in the disease phenotype, several risk alleles that correlate with certain phenotypic features have been identified among the Finns, further emphasizing the broad value of studying genetically isolated populations.

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Section: The Fdhmentioning

confidence: 99%

The Finnish genetic heritage in 2022 – from diagnosis to translational research

Uusimaa

Kettunen

Varilo

et al. 2022

Disease Models &Amp; Mechanisms

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“…112,386 In humans, serum B2M has shown good correlation with eGFR, especially in genetic kidney diseases, but poor correlation with urine protein or albumin. 387 In human nephrology, its use as a non-creatinine renal filtration marker has been surpassed by CysC. Similarly, serum B2M was outperformed by serum CysC in the detection of renal damage in dogs with CKD and other kidney diseases.…”

Section: B2 Microglobulinmentioning

confidence: 99%

A Review of Specific Biomarkers of Chronic Renal Injury and Their Potential Application in Nonclinical Safety Assessment Studies

et al. 2021

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A host of novel renal biomarkers have been developed over the past few decades which have enhanced monitoring of renal disease and drug-induced kidney injury in both preclinical studies and in humans. Since chronic kidney disease (CKD) and acute kidney injury (AKI) share similar underlying mechanisms and the tubulointerstitial compartment has a functional role in the progression of CKD, urinary biomarkers of AKI may provide predictive information in chronic renal disease. Numerous studies have explored whether the recent AKI biomarkers could improve upon the standard clinical biomarkers, estimated glomerular filtration rate (eGFR), and urinary albumin to creatinine ratio, for predicting outcomes in CKD patients. This review is an introduction to alternative assays that can be utilized in chronic (>3 months duration) nonclinical safety studies to provide information on renal dysfunction and to demonstrate specific situations where these assays could be utilized in nonclinical drug development. Novel biomarkers such as symmetrical dimethyl arginine, dickkopf homolog 3, and cystatin C predict chronic renal injury in animals, act as surrogates for GFR, and may predict changes in GFR in patients over time, ultimately providing a bridge from preclinical to clinical renal monitoring.

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“…Renal disease is common in LPI. Disturbed proximal tubular function with mild proteinuria, tubular acidosis, and microhematuria may begin in childhood and often progress to glomerular dysfunction and end-stage renal failure [143][144][145]. Frequent complications include bone marrow involvement with hemophagocytic lymphohistiocytosis and interstitial pulmonary disease with alveolar proteinosis [137,146].…”

Section: Lysinuric Protein Intolerance (Omim #222700)mentioning

confidence: 99%

Amino Acid Transport Defects in Human Inherited Metabolic Disorders

Yahyaoui

Pérez‐Frías

2019

IJMS

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Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. With regard to transporters that are closely connected to metabolism, amino acid transporter-associated diseases are linked to metabolic disorders, particularly when they involve different organs, cell types, or cell compartments. To date, 65 different human solute carrier (SLC) families and more than 400 transporter genes have been identified, including 11 that are known to include amino acid transporters. This review intends to summarize and update all the conditions in which a strong association has been found between an amino acid transporter and an inherited metabolic disorder. Many of these inherited disorders have been identified in recent years. In this work, the physiological functions of amino acid transporters will be described by the inherited diseases that arise from transporter impairment. The pathogenesis, clinical phenotype, laboratory findings, diagnosis, genetics, and treatment of these disorders are also briefly described. Appropriate clinical and diagnostic characterization of the underlying molecular defect may give patients the opportunity to avail themselves of appropriate therapeutic options in the future.

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Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI

Cited by 13 publications

References 33 publications

The Finnish genetic heritage in 2022 – from diagnosis to translational research

The Finnish genetic heritage in 2022 – from diagnosis to translational research

A Review of Specific Biomarkers of Chronic Renal Injury and Their Potential Application in Nonclinical Safety Assessment Studies

Amino Acid Transport Defects in Human Inherited Metabolic Disorders

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