Biomaterial Database

[Alport syndrom (author's transl)]. 1977

H Schönenberg, and H G Marenberg

A deaf-and-dumb patient died at the age of ten of failure of the kidneys. An uncle of the boy died at the age of 42, an aunt at the age of 16 years, both of atrophic kidneys. The mother of the proband is suffering from hard hearing on one side and recurrent episodes of pyuria. Repeated examinations in two aunts revealed slight pyuria resp. erythruria. Contrary to most reports affected members of the family showed pyuria rather than haematuria. A special inheritance could not be proved.

UI	MeSH Term	Description	Entries
D008297	Male		Males
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
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
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
D003638	Deafness	A general term for the complete loss of the ability to hear from both ears.	Deafness Permanent,Hearing Loss Permanent,Prelingual Deafness,Deaf Mutism,Deaf-Mutism,Deafness, Acquired,Hearing Loss, Complete,Hearing Loss, Extreme,Acquired Deafness,Complete Hearing Loss,Deafness, Prelingual,Extreme Hearing Loss,Permanent, Deafness,Permanent, Hearing Loss,Permanents, Deafness
D006417	Hematuria	Presence of blood in the urine.	Hematurias
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016135	Spinal Dysraphism	Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)	Rachischisis,Spina Bifida,Status Dysraphicus,Cleft Spine,Open Spine,Schistorrhachis,Spinal Dysraphia,Bifida, Spina,Cleft Spines,Dysraphia, Spinal,Dysraphicus, Status,Dysraphism, Spinal,Dysraphisms, Spinal,Open Spines,Rachischises,Spina Bifidas,Spinal Dysraphias,Spinal Dysraphisms,Spine, Cleft,Spine, Open