Here I present: “Pelviureteric Junction Obstruction”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PJO) 尿盆腔交界處阻塞。icd10=N13.0
INTRODUCTION.
Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, pelviureteric junction obstruction (PJO), hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure.
Pelviureteric junction obstruction (PJO) is a condition where blockage occurs at the junction where the ureter attaches to the kidney. This results in decreased flow of urine down the ureter and an increase of fluid pressure inside the kidney. Increased pressure inside the kidney can over time cause deterioration of kidney function. The obstruction can be either congenital (the patient is born with it) or develop over time secondary to trauma or change in body shape with age. The blockage can be due to scar tissue, kinking, a blood vessel.
There is evidence that congenital anomalies of the kidney and urinary tract (CAKUT) is caused by heterozygous mutation in the TBX18 gene on cytogenetic location 6q14.3 and genomic coordinates 6:84,732,496-84,764,598. The screenshot of the TBX18 gene 32,103 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TBX18 in the 6q14.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:83,853,229 | RIPPLY2 | Ripply transcriptional repressor 2 |
| 6:83,859,689 | CYB5R4 | Cytochrome b5 reductase 4 |
| 6:84,033,178 | MRAP2 | Melanocortin 2 receptor accessory protein 2 |
| 6:84,124,250 | CEP162 | Centrosomal protein, 162kD |
| 6:84,732,496 | TBX18 | T-box 18 |
| 6:85,450,083 | NT5E | 5′ nucleotidase, ecto (CD73) |
| 6:85,505,496 | SNX14 | Sorting nexin 14 |
| 6:85,607,784 | SYNCRIP | Synaptotagmin-binding cytoplasmic RNA-interacting protein |
| 6:85,677,007 | SNHG5 | Small nucleolar RNA host gene 5 |
| 6:85,677,294 | SNORD50A | Small nucleolar RNA, C/D box, 50A |
