Phenotypes associated with the disease tubulointerstitial kidney disease, autosomal dominant 6 (OMIM:621106):
- Renal interstitial inflammation (HP:0032945): Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. Evidence: PCS. Frequency: 5/8. (PMID:38096951)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 1/1. (PMID:38096951)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/1. (PMID:38096951)
- Renal interstitial fibrosis (HP:0032948): The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. Evidence: PCS. Frequency: 4/8. (PMID:38096951)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:38096951)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: PCS. Frequency: 0/8. (PMID:38096951)
- Glomerular sclerosis (HP:0000096): Accumulation of scar tissue within the glomerulus. Evidence: PCS. Frequency: 7/7. (PMID:38096951)
- Glomerular basement membrane electron dense deposits (HP:0033499): Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. Evidence: PCS. Frequency: 0/1. (PMID:38096951)
- Glomerular basement membrane wrinkling (HP:0033289): Irregular folding of the glomerular basement membrane with an intact lamina densa. Evidence: PCS. Frequency: 2/3. (PMID:38096951)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 0/8. (PMID:38096951)
- Renal tubular atrophy (HP:0000092): The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. Evidence: PCS. Frequency: 7/8. (PMID:38096951)
- Decreased glomerular filtration rate (HP:0012213): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: PCS. Frequency: 8/8. (PMID:38096951)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: PCS. Frequency: 7/7. (PMID:38096951)
- Abnormal Bowman capsule morphology (HP:0031264): A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. Evidence: PCS. Frequency: 1/1. (PMID:38096951)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:38096951)
- Gout (HP:0001997): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: PCS. Frequency: 1/1. (PMID:38096951)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:38096951)