Posterior urethral valve
ORPHA:93110Morphological anomalyAutosomal recessive, Not applicable, X-linked recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)3
HP:0000010Recurrent urinary tract infections
HP:0010957Congenital posterior urethral valve
HP:0012622Chronic kidney disease
Частый (30–79%)3
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0041047Bladder outlet obstruction
Периодический (5–29%)16
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0010945Fetal pyelectasis
HP:0010955Dilatation of the bladder
HP:0010956Fetal megacystis
HP:0012330Pyelonephritis
HP:0000015Bladder diverticulum
HP:0000020Urinary incontinence
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000110Renal dysplasia
HP:0000790Hematuria
HP:0000822Hypertension
HP:0002009Potter facies
HP:0002027Abdominal pain
HP:0003419Low back pain
HP:0003774Stage 5 chronic kidney disease
Очень редкий (1–4%)5
HP:0000016Urinary retention
HP:0001254Lethargy
HP:0001562Oligohydramnios
HP:0008661Urethral stenosis
HP:0100518Dysuria
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.125 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.4 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)