Here I present: “Renal Glucosuria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SLC5A2) 腎糖尿。icd10=R81
INTRODUCTION.
Renal glucosuria is a condition in which the sugar glucose is excreted in the urine despite normal or low blood glucose levels.
With normal kidney (renal) function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood.
However, in those with renal glucosuria, glucose is abnormally elevated in the urine due to improper functioning of the renal tubules, which are primary components of nephrons, the filtering units of the kidneys.
Patients with familial renal glucosuria have decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and any other signs of tubular dysfunction.
There is evidence that renal glucosuria is caused by mutation in the “solute carrier-5A2” (SLC5A2) gene on cytogenetic location 16p11.2 and genomic coordinates 16:31,483,123-31,490,769. The screenshot of the SLC5A2 gene 7,647 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SLC5A2 in the 16p11.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 16:31,393,335 | ITGAD | Integrin, alpha D |
| 16:31,427,731 | COX6A2 | Cytochrome c oxidase, subunit 6A2 |
| 16:31,458,304 | ARMC5 | Armadillo repeat-containing protein 5 |
| 16:31,472,152 | TGFB1I1 | Transforming growth factor, beta-1-induced 1 |
| 16:31,483,123 | SLC5A2 | Solute carrier family 5 member 2 |
| 16:31,527,900 | AHSP | Alpha-hemoglobin stabilizing protein |
| 16:31,873,807 | ZNF267 | Zinc finger protein-167 |
| 16:32,673,530 | TP53TG3 | TP53 target gene 3 |
| 16:36,800,001 | AA2 | Alopecia areata 2 |
| 16:36,800,001 | DUPC1 | Dupuytren contracture 1 |
