Biomaterial Database

Evidence for cerebral involvement in nephropathic cystinosis. 1979

J H Ehrich, and L Stoeppler, and G Offner, and J Brodehl

Cranial computerized tomography (CCT) of 3 children with nephropathic cystinosis and chronic renal failure (CRF) revealed a hydrocephalus internus and externus. In two boys the findings consisted of bilateral dilatation of the ventricular system and of the subarachnoid space; in one boy the alterations were mainly unilateral. The children had repeated convolsions which could not be explained by deterioration of renal function. Their neurological condition was otherwise normal. In six non-cystinotic patients with chronic renal failure, CCT showed normal anatomical structures. The possibility is discussed that the hitherto unknown pathogenetic mechanism of cystinosis leads to diffuse cerebral atrophy, resulting in internal and external hydrocephalus.

UI	MeSH Term	Description	Entries
D007676	Kidney Failure, Chronic	The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.	ESRD,End-Stage Renal Disease,Renal Disease, End-Stage,Renal Failure, Chronic,Renal Failure, End-Stage,Chronic Kidney Failure,End-Stage Kidney Disease,Chronic Renal Failure,Disease, End-Stage Kidney,Disease, End-Stage Renal,End Stage Kidney Disease,End Stage Renal Disease,End-Stage Renal Failure,Kidney Disease, End-Stage,Renal Disease, End Stage,Renal Failure, End Stage
D008297	Male		Males
D001927	Brain Diseases	Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.	Intracranial Central Nervous System Disorders,Brain Disorders,CNS Disorders, Intracranial,Central Nervous System Disorders, Intracranial,Central Nervous System Intracranial Disorders,Encephalon Diseases,Encephalopathy,Intracranial CNS Disorders,Brain Disease,Brain Disorder,CNS Disorder, Intracranial,Encephalon Disease,Encephalopathies,Intracranial CNS Disorder
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002657	Child Development	The continuous sequential physiological and psychological maturing of an individual from birth up to but not including ADOLESCENCE.	Infant Development,Development, Child,Development, Infant
D003554	Cystinosis	A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.	Cystine Diathesis,Cystine Disease,Cystine Storage Disease,Cystinoses,Cystinosin, Defect of,Cystinosis, Nephropathic,Lysosomal Cystine Transport Protein, Defect Of,Nephropathic Cystinosis,Cystine Diatheses,Cystine Diseases,Cystine Storage Diseases,Cystinoses, Nephropathic,Defect of Cystinosin,Diatheses, Cystine,Diathesis, Cystine,Nephropathic Cystinoses,Storage Disease, Cystine,Storage Diseases, Cystine
D004569	Electroencephalography	Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.	EEG,Electroencephalogram,Electroencephalograms
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006849	Hydrocephalus	Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.	Communicating Hydrocephalus,Congenital Hydrocephalus,Obstructive Hydrocephalus,Post-Traumatic Hydrocephalus,Aqueductal Stenosis,Cerebral Ventriculomegaly,Fetal Cerebral Ventriculomegaly,Hydrocephalus Ex-Vacuo,Hydrocephaly,Aqueductal Stenoses,Cerebral Ventriculomegalies,Cerebral Ventriculomegalies, Fetal,Cerebral Ventriculomegaly, Fetal,Fetal Cerebral Ventriculomegalies,Hydrocephalus Ex Vacuo,Hydrocephalus Ex-Vacuos,Hydrocephalus, Communicating,Hydrocephalus, Congenital,Hydrocephalus, Obstructive,Hydrocephalus, Post-Traumatic,Post Traumatic Hydrocephalus,Stenoses, Aqueductal,Stenosis, Aqueductal,Ventriculomegalies, Cerebral,Ventriculomegalies, Fetal Cerebral,Ventriculomegaly, Cerebral,Ventriculomegaly, Fetal Cerebral
D001284	Atrophy	Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.	Atrophies