Biomaterial Database

Primary hyperoxaluria: an important cause of renal failure in infancy. 1985

E P Leumann

All 25 infants with primary hyperoxaluria type I (PH) so far reported in detail (including one own observation) presented in renal failure (RF) whereas urolithiasis has conspiciously been absent. Diagnosis of PH was often delayed due to nonspecific symptoms of RF: Vomiting, anemia and severe metabolic acidosis. However, demonstration of increased renal echodensity at ultrasound examination should allow early diagnosis. A flecked retina has been noted in several infants. In contrast, our patient had black retinal pigmentations which have only once been reported in PH. Prognosis in untreated patients has so far been poor: 67% died within the first 6 months of life. It is likely that early diagnosis and treatment will improve prognosis in the future.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
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
D010070	Oxalates	Derivatives of OXALIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that are derived from the ethanedioic acid structure.	Oxalate,Ethanedioic Acids,Oxalic Acids,Acids, Ethanedioic,Acids, Oxalic
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D012164	Retinal Diseases	Diseases involving the RETINA.	Disease, Retinal,Diseases, Retinal,Retinal Disease
D001847	Bone Diseases	Diseases of BONES.	Bone Disease,Disease, Bone,Diseases, Bone
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006016	Glycolates	Derivatives of ACETIC ACID which contain an hydroxy group attached to the methyl carbon.	2-Hydroxyacetates,Glycolate Ethers,Hydroxyacetate Ethers,Hydroxyacetates,Hydroxyacetic Acids,2 Hydroxyacetates,Acids, Hydroxyacetic,Ethers, Glycolate,Ethers, Hydroxyacetate
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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