Hereditary amyloidosis with primary renal involvement
ORPHA:85450DiseaseAutosomal dominantAll ages
Фенотипы (HPO)43
Очень частый (80–99%)3
HP:0000093Proteinuria
HP:0000112Nephropathy
HP:0032613Renal interstitial amyloid deposits
Частый (30–79%)7
HP:0000083Renal insufficiency
HP:0000822Hypertension
HP:0001970Tubulointerstitial nephritis
HP:0003259Elevated circulating creatinine concentration
HP:0011024Abnormality of the gastrointestinal tract
HP:0012213Decreased glomerular filtration rate
HP:0012591Abnormal urinary electrolyte concentration
Периодический (5–29%)28
HP:0000017Nocturia
HP:0000092Renal tubular atrophy
HP:0000100Nephrotic syndrome
HP:0000967Petechiae
HP:0000979Purpura
HP:0001410Decreased liver function
HP:0001433Hepatosplenomegaly
HP:0001635Congestive heart failure
HP:0001824Weight loss
HP:0001903Anemia
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002018Nausea
HP:0002020Gastroesophageal reflux
HP:0002027Abdominal pain
HP:0002239Gastrointestinal hemorrhage
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0002733Abnormality of the lymph nodes
HP:0003198Myopathy
HP:0003233Decreased HDL cholesterol concentration
HP:0003565Elevated erythrocyte sedimentation rate
HP:0005214Intestinal obstruction
HP:0005576Tubulointerstitial fibrosis
HP:0009830Peripheral neuropathy
HP:0031368Intestinal perforation
HP:0031799Decreased apolipoprotein AI level
HP:0410281Dyspepsia
Очень редкий (1–4%)5
HP:0000035Abnormal testis morphology
HP:0000135Hypogonadism
HP:0000798Oligozoospermia
HP:0003251Male infertility
HP:0008720Primary testicular failure
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)