Investigation of renal biomarkers in patients diagnosed with organic acidemias

Project no. 21009 · Status: Kapanmış (Yayın bekleniyor) · 2020

Summary

INTRODUCTION: The 'classic' organic acidemias (OAs) (propionic, methylmalonic, and isovaleric) are typically present in neonates or infants with acute metabolic decompensation. Acute or chronic renal manifestations are the clinical findings of organic acidemias. Chronic renal failure (CRF) is a frequent complication, especially in methylmalonic acidemia (MMA) patients. CRF starts from early childhood in MMA patients with severe disease. Late-onset renal failure has also been reported in several propionic acidemias (PA) patients. Estimated glomerular filtration rate (eGFR) or GFR should be used for monitoring renal functions in individuals with low muscle mass, as seen in MMA. Neutrophil gelatinase-associated lipocalin (NGAL) is closely associated with acute kidney injury (AKI). Clinical studies have shown that the expression of urine and serum NGAL increases significantly in AKI. NGAL level is closely associated with the severity of kidney disease. Also, kidney injury marker-1 (KIM-1) is known to be associated with kidney disease progression. We aimed to investigate whether urine and serum NGAL and KIM-1 levels can be used to indicate renal involvement in patients diagnosed with classical organic acidemia.MATERIAL- METHOD 19 patients were diagnosed with classical organic acidemias, and gender and age-matched 31 healthy controls were enrolled. NGAL and KIM-1 analysis performed in urine and blood.RESULTS: Thirteen patients were diagnosed with MMA, four patients with PA, and two with IVA. The mean age of patients who were diagnosed with organic acidemia was 10.8±5.7 (3-20) years. Patients' mean age at diagnosis was 11.5 ± 14.02 (0.3- 60) months. The ratio of gender M/F=8/11 in the organic acidemias group and M/F=12/18 in the control group. Urine and blood NGAL and KIM-1 levels were measured in the patient and control groups. A significant difference was found in the urinary NGAL levels between the groups. Mean urinary NGAL was 198.3±54.5 in the control group and 249.4±61.5 in the organic acidemias group (p=0.004). Serum NGAL, KIM-1 levels, and urinary KIM-1 levels were higher in patients with organic acidemias, but there was no significant difference between the groups. The mean serum urea level was 27.7 ± 18.5 (8-89) mg/dL, and the mean serum creatinine level was 0.87 ± 0.7 (0.3-2.6) mg/dL in the organic acidemia group. The mean eGFR was 185 ±98.8 (18.6-199) ml/min/1.73m2. eGFR levels were low in 5 patients diagnosed with MMA.CONCLUSION: In this study, renal involvement was observed in MMA patients in accordance with the literature. The findings suggested that urinary NGAL levels can be used in terms of renal involvement in patients with MMA. Further studies are needed with more significant numbers of patients regarding its superiority over the existing other renal indicators.Key words: Organic acidemia, NGAL, KIM-1, renal marker

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