Lysinuric protein intolerance
ORPHA:470DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)77
Очень частый (80–99%)1
HP:0001508Failure to thrive
Частый (30–79%)48
HP:0000091Abnormal renal tubule morphology
HP:0000093Proteinuria
HP:0000099Glomerulonephritis
HP:0000121Nephrocalcinosis
HP:0000124Renal tubular dysfunction
HP:0000790Hematuria
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001249Intellectual disability
HP:0001394Cirrhosis
HP:0001399Hepatic failure
HP:0001433Hepatosplenomegaly
HP:0001510Growth delay
HP:0001873Thrombocytopenia
HP:0001882Leukopenia
HP:0001892Abnormal bleeding
HP:0001903Anemia
HP:0001987Hyperammonemia
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002093Respiratory insufficiency
HP:0002154Hyperglycinemia
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0002570Steatorrhea
HP:0002750Delayed skeletal maturation
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003124Hypercholesterolemia
HP:0003141Increased LDL cholesterol concentration
HP:0003217Hyperglutaminemia
HP:0003233Decreased HDL cholesterol concentration
HP:0003268Argininuria
HP:0003297Hyperlysinuria
HP:0003348Hyperalaninemia
HP:0006517Intraalveolar phospholipid accumulation
HP:0006530Abnormal pulmonary interstitial morphology
HP:0008358Hyperprolinemia
HP:0008947Floppy infant
HP:0011966Elevated plasma citrulline
HP:0011968Feeding difficulties
HP:0012156Hemophagocytosis
HP:0012213Decreased glomerular filtration rate
HP:0012278Abnormality of serine metabolism
HP:0012523Oral aversion
HP:0012622Chronic kidney disease
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0031020Bone marrow hypercellularity
HP:0100543Cognitive impairment
Периодический (5–29%)21
HP:0000822Hypertension
HP:0001254Lethargy
HP:0001259Coma
HP:0001627Abnormal heart morphology
HP:0001733Pancreatitis
HP:0001917Renal amyloidosis
HP:0001947Renal tubular acidosis
HP:0001970Tubulointerstitial nephritis
HP:0002206Pulmonary fibrosis
HP:0003218Oroticaciduria
HP:0003281Increased circulating ferritin concentration
HP:0003532Ornithinuria
HP:0005368Abnormality of humoral immunity
HP:0005548Megakaryocytopenia
HP:0010701Abnormal immunoglobulin level
HP:0011424Increased serum zinc
HP:0011900Hypofibrinogenemia
HP:0012280Hepatic amyloidosis
HP:0012578Membranous nephropathy
HP:0020151Anti-dsDNA antibody positivity
HP:0030760Renal fibrosis
Очень редкий (1–4%)7
HP:0000824Decreased response to growth hormone stimulation test
HP:0002718Recurrent bacterial infections
HP:0002756Pathologic fracture
HP:0003493Antinuclear antibody positivity
HP:0004313Decreased circulating antibody level
HP:0004431Complement deficiency
HP:0010702Increased circulating antibody level
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Finland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.75 | Japan | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)