P < 0.001 (Fisher exact probability test).c l i n i c a l i n v e s t i g a t i o n AM _ Zurowska et al.: Mild Alport syndrome due to founder COL4A5 p.G624D AM _ Zurowska et al.: Mild Alport syndrome due to founder COL4A5 p.G624D c l i n i c a l i n v e s t i g a t i o n Kidney International (2021) -, ---AM _ Zurowska et al.: Mild Alport syndrome due to founder COL4A5 p.G624Dc l i n i c a l i n v e s t i g a t i o n

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Differential distribution of genetic variants’ frequency among human populations is caused by the genetic drift in isolated populations, historical migrations, and demography. Some of these variants are identical by descent and represent founder mutations, which — if pathogenic in nature — lead to the increased frequency of otherwise rare diseases. The detection of the increased regional prevalence of pathogenic variants may shed light on the historical processes that affected studied populations and can help to develop effective screening and diagnostic strategies as a part of personalized medicine. Here, we discuss the specific genetic diversity in Kashubs, the minority group living in northern Poland, reflected in the biased distribution of some of the repetitively found disease-causing variants. These include the following: (1) c.662A > G (p.Asp221Gly) in LDLR, causing heterozygous familial hypercholesterolemia; (2) c.3700_3704del in BRCA1, associated with hereditary breast and ovarian cancer syndrome; (3) c.1528G > C (p.Glu510Gln) in HADHA, seen in long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency, and (4) c.1032delT in NPHS2, associated with steroid-resistant nephrotic syndrome.

<br><b>Introduction:</b> Urinalysis is one of the most frequently performed laboratory tests. An importantfeature of urinalysis standardization is unifying laboratory report forms to enable the analysisof the results obtained in different laboratories and/or at different times.</br><br><b>Aim:</b> The aim of the study was to analyze the urinalysis laboratory report forms in medicallaboratories and to compare them with the Polish Society of Laboratory Diagnostics (PTDL)urinalysis guidelines published in 2019 (Bil-Lula et al. Diagn Lab 2019; 55: 145198).</br><br><b>Material and methods:</b> In total, 52 urinalysis laboratory reports were analyzed. The majority(85%) included dipstick and urine particle analyses. The reports were obtained from 26laboratories from 8 voivodeships in Poland. The highest percentages of laboratories werefrom Pomeranian Voivodeship (35%) and from large cities with more than 100.000 inhabitants(58%).</br><br><b>Results:</b> The reports showed high variability in the names of the parameters, the referenceranges used, and the manner of expressing the patients results. For dipstick erythrocytes,eight different expressions were used including erythrocytes, blood, red blood cells, blood(free hemoglobin). For specific gravity, eleven different reference ranges were used, and formost parameters, a significant percentage of the laboratory report forms (up to 70% for colorand clarity) had no reference ranges. There was also no consistency in the presentation of thepatients results in relation to the reference ranges. In some reports, colloquial expressions,such as sugar, transparency, nonstandard abbreviations, such as Ery/Hb, poj, andtypographical errors were present.</br><br><b>Conclusions:</b> Urinalysis reports in laboratories are not standardized, thus, it is advisable toimplement corrective actions aimed at standardizing the presentation of data. The PTDLguidelines published in 2019 can help in this regard.</br>