Alport syndrome
ORPHA:63DiseaseAutosomal dominant, Autosomal recessive, X-linked dominantAdolescent, Adult, Childhood, Elderly
Фенотипы (HPO)38
Очень частый (80–99%)3
HP:0000790Hematuria
HP:0012577Thin glomerular basement membrane
HP:0030034Diffuse glomerular basement membrane lamellation
Частый (30–79%)4
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000822Hypertension
HP:0012574Mesangial hypercellularity
Периодический (5–29%)18
HP:0000092Renal tubular atrophy
HP:0000097Focal segmental glomerulosclerosis
HP:0000100Nephrotic syndrome
HP:0000123Nephritis
HP:0000407Sensorineural hearing impairment
HP:0000478Abnormality of the eye
HP:0000495Recurrent corneal erosions
HP:0000794IgA deposition in the glomerulus
HP:0002907Microscopic hematuria
HP:0003774Stage 5 chronic kidney disease
HP:0004722Thickening of the glomerular basement membrane
HP:0005576Tubulointerstitial fibrosis
HP:0011488Abnormal corneal endothelium morphology
HP:0011501Anterior lenticonus
HP:0012045Retinal flecks
HP:0012576Glomerular C3 deposition
HP:0025005Thickening of glomerular capillary wall
HP:0032583Renal glomerular foam cells
Очень редкий (1–4%)13
HP:0000608Macular degeneration
HP:0001679Abnormal aortic morphology
HP:0002013Vomiting
HP:0002015Dysphagia
HP:0002094Dyspnea
HP:0002837Recurrent bronchitis
HP:0004942Aortic aneurysm
HP:0006756Diffuse leiomyomatosis
HP:0007787Posterior subcapsular cataract
HP:0008665Clitoral hypertrophy
HP:0010307Stridor
HP:0012735Cough
HP:0410019Epigastric pain
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)