Biomaterial Database

Renal tubular acidosis and nerve deafness. 1980

D B Dunger, and D P Brenton, and A R Cain

Two brothers are described with renal tubular acidosis and nerve deafness: the elder also had rickets and hypokalaemia. The parents were unaffected. Studies of urinary acidification and bicarbonate excretion were consistent with a distal tubular abnormality. This report strengthens the view previously proposed in similar cases that nerve deafness and renal tubular acidosis constitute a genetic entity. Examination for nerve deafness is indicated in any child with renal tubular acidosis.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007677	Kidney Function Tests	Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine.	Function Test, Kidney,Function Tests, Kidney,Kidney Function Test,Test, Kidney Function,Tests, Kidney Function
D008297	Male		Males
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
D006319	Hearing Loss, Sensorineural	Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.	Deafness Neurosensory,Deafness, Neurosensory,Deafness, Sensoryneural,Neurosensory Deafness,Sensorineural Hearing Loss,Sensoryneural Deafness,Cochlear Hearing Loss,Hearing Loss, Cochlear,Deafnesses, Neurosensory,Deafnesses, Sensoryneural,Neurosensory Deafnesses,Sensoryneural Deafness,Sensoryneural Deafnesses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000141	Acidosis, Renal Tubular	A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.	Renal Tubular Acidosis,Renal Tubular Acidosis, Type I,Renal Tubular Acidosis, Type II,Type I Renal Tubular Acidosis,Type II Renal Tubular Acidosis,Acidosis, Renal Tubular, Type I,Acidosis, Renal Tubular, Type II,Autosomal Dominant Distal Renal Tubular Acidosis,Classic Distal Renal Tubular Acidosis,Distal Renal Tubular Acidosis,Proximal Renal Tubular Acidosis,RTA, Classic Type,RTA, Distal Type, Autosomal Dominant,RTA, Gradient Type,RTA, Proximal Type,Renal Tubular Acidosis 1,Renal Tubular Acidosis I,Renal Tubular Acidosis II,Renal Tubular Acidosis, Distal, Autosomal Dominant,Renal Tubular Acidosis, Proximal,Renal Tubular Acidosis, Proximal, with Ocular Abnormalities,Classic Type RTA,Classic Type RTAs,Gradient Type RTA,Gradient Type RTAs,Proximal Type RTA,Proximal Type RTAs,RTAs, Classic Type,RTAs, Gradient Type,RTAs, Proximal Type
D012279	Rickets	Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances.	Rachitis,Rachitides

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