Biomaterial Database

[Alport's-syndrome: diagnosis, light- and electronmicroscopic findings (author's transl)]. 1976

E Balzar, and G Lubec, and G Syŕe, and G Weissenbacher

Alport's syndrome is a hereditary nephropathy with grave prognostic consequences. The occurrence of this disease is probably more frequent than was assumed until now - many cases are not immediately recognized as such. It is possible to make a clinical diagnosis from detailed family histories and through careful examinations of family members including audiometric tests. In the early stages of the disease children merely have recurrent macro- or microhematuria. Renal functional tests are normal and there is general well-being of the patient. Whereas the biopsy specimens examined by light microscopy show non-specific alterations, those examined under the electronmicroscope already show specific defects of the basement membrane. Our studies lead us to believe that these morphologic findings correspond with changes of the basement membrane, detectable by immunochemical investigations. 6 of 12 patients have been biopsied in recent time and the above cited typical changes of the basement membrane could be demonstrated. Therefore these investigations are recommended in Alport's syndrome.

UI	MeSH Term	Description	Entries
D007158	Immunologic Techniques	Techniques used to demonstrate or measure an immune response, and to identify or measure antigens using antibodies.	Antibody Dissociation,Immunologic Technic,Immunologic Technics,Immunologic Technique,Immunological Technics,Immunological Techniques,Technic, Immunologic,Technics, Immunologic,Technique, Immunologic,Techniques, Immunologic,Antibody Dissociations,Dissociation, Antibody,Dissociations, Antibody,Immunological Technic,Immunological Technique,Technic, Immunological,Technics, Immunological,Technique, Immunological,Techniques, Immunological
D007674	Kidney Diseases	Pathological processes of the KIDNEY or its component tissues.	Disease, Kidney,Diseases, Kidney,Kidney Disease
D008297	Male		Males
D008487	Medical History Taking	Acquiring information from a patient on past medical conditions and treatments.	Medical History, Previous,Past Medical History, Family,Previous Medical History,Family Health History,Family History, Health,Family History, Medical,Family Medical History,History Taking, Medical,Family Health Histories,Family Medical Histories,Health Family Histories,Health Family History,Health History, Family,History, Previous Medical,Medical Family Histories,Medical Family History,Medical Histories, Previous,Medical History, Family,Previous Medical Histories
D009394	Nephritis, Hereditary	A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.	Alport's Syndrome,Nephritis, Familial,Alport Syndrome,Alport Syndrome, Autosomal Dominant,Alport Syndrome, Autosomal Recessive,Alport Syndrome, X-Linked,Congenital Hereditary Hematuria,Hematuria-Nephropathy-Deafness Syndrome,Hematuric Hereditary Nephritis,Hemorrhagic Familial Nephritis,Hemorrhagic Hereditary Nephritis,Hereditary Familial Congenital Hemorrhagic Nephritis,Hereditary Hematuria Syndrome,Hereditary Interstitial Pyelonephritis,Hereditary Nephritis,Alport Syndrome, X Linked,Familial Nephritis,Hematuria Nephropathy Deafness Syndrome,Hematuria, Congenital Hereditary,Nephritis, Hematuric Hereditary,Nephritis, Hemorrhagic Familial,Nephritis, Hemorrhagic Hereditary,Pyelonephritis, Hereditary Interstitial,Syndrome, Alport,Syndrome, Hematuria-Nephropathy-Deafness,X-Linked Alport Syndrome
D011507	Proteinuria	The presence of proteins in the urine, an indicator of KIDNEY DISEASES.	Proteinurias
D011776	Pyuria	The presence of white blood cells (LEUKOCYTES) in the urine. It is often associated with bacterial infections of the urinary tract. Pyuria without BACTERIURIA can be caused by TUBERCULOSIS, stones, or cancer.	Pyurias
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005132	Eye Manifestations	Ocular disorders attendant upon non-ocular disease or injury.	Eye Manifestation,Manifestation, Eye,Manifestations, Eye