In order to promote measures against intractable diseases and childhood chronic diseases, the research team of this project has established a research system covering all intractable diseases and others. The intractable disease medical support network centered on the intractable disease medical treatment cooperation base hospital has been put into operation as a medical care provision system for intractable diseases. This project is expected to contribute as a commander for…
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Chronic kidney disease (CKD) is a new disease concept established in the 2000s. Irrespective of the cause of the disease, it refers to a condition in which there is an abnormality in the urinalysis, a decrease in the function of the kidney, or an abnormality in the shape of the kidney which is known by the examination such as ultrasound. It is known that the risk of progression to end-stage renal failure requiring dialysis and kidney transplantation in the future is extremely…
MoreAlport syndrome is a hereditary chronic nephritis and often progresses to end-stage renal failure. Patients with chronic nephritis do not experience any symptoms…
Galloway-Mowat syndrome is a disorder presenting with three symptoms, microcephaly, heavy proteinuria, and facial morphological abnormalities such as malformed ears, due to developmental dysplasia of two organs, the head…
Epstein syndrome is a hereditary disease characterized by 3 symptoms: 1) macrothrombocytopenia, 2) progressive renal dysfunction, and 3) sensorineural hearing loss. As for 1) macrothrombocytopenia…
Nail–patella syndrome is a hereditary disease characterized by dysplastic nails (nails with abnormal shape), absent or hypoplastic patellae (small or missing knee caps), elbow dysplasia…
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are a cause of disease in the “kidney” and “urinary tract,” which is the path urine travels through (e.g., renal pelvis, ureter, bladder…
It is a disease characterized by protein, which does not normally leak from the blood, going out into the urine in large quantities, leading to a decrease…
Nephronophthisis is a progressive cystic kidney disease characterized by cysts (round sacs) developing in the kidneys. Nephronophthisis is considered to be caused by structural and functional abnormalities of primary cilia in the kidney tubular cells, which result in structural and functional kidney disorders…
These diseases are syndromes where congenital renal tubular dysfunction causes hypokalemia and metabolic alkalosis, as well as their associated clinical symptoms…
Nephrotic syndrome is a disease characterized by low levels of protein (especially albumin) in the blood (hypoproteinemia/hypoalbuminemia) due to large amount…
Lowe syndrome is a hereditary disease characterized by three groups of symptoms: 1) eye manifestations, 2) central nervous manifestations, and 3) kidney manifestations. The disease is said to mostly occur in boys and very rarely in girls…
Branchio-oto-renal syndrome (BOR) is a disease characterized by cervical fistula, aural fistula, and auricular anomaly, etc. (known as “branchiogenic anomalies”) associated…
