Here I present: “Idiopathic Hypercalciuria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 特發性高鈣尿症。(HCA1).
INTRODUCTION.
Idiopathic Hypercalciuria is the condition of elevated calcium in the urine. Chronic idopathic hypercalciuria may lead to impairment of renal function, nephrocalcinosis, and chronic kidney disease. Patients with idiopathic hypercalciuria have kidneys that excrete higher levels of calcium than normal, for which there are many possible causes. Calcium may come from one of two paths: through the gut where higher than normal levels of calcium are absorbed by the body or mobilized from stores in the bones. After initial 24-hour urine calcium testing and additional lab testing, a bone density scan (DSX) may be performed to determine if the calcium is being obtained from the bones.
A locus for absorptive hypercalciuria type-1 (HCA1) has been mapped to cytogenetic location 4q33-qter and genomic coordinates 4:169,200,001-190,214,555. The screenshot of the HCA1 gene 21,014,555 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HCA1 in the 4q33-qter cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:168,356,735 | DDX60L | DExD/H-box 60 like |
| 4:168,497,052 | PALLD | Palladin, cytoskeletal-associated protein |
| 4:168,894,486 | CBR4 | Carbonyl reductase 4 |
| 4:169,094,259 | SH3RF1 | SH3 domain RING finger protein 1 |
| 4:169,200,001 | HCA1 | Hypercalciuria, absorptive, 1 |
| 4:169,392,809 | NEK1 | NIMA-related kinase 1 |
| 4:169,620,578 | CLCN3 | Chloride channel-3 |
| 4:169,729,470 | HPF1 | Histone PARylation factor 1 |
| 4:169,986,602 | MFAP3L | Microfibrillar-associated protein 3-like |
| 4:170,060,222 | AADAT | Alpha-aminoadipate aminotransferase |
