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Summary
RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I
RENAL TUBULAR ACIDOSIS I (dRTA)
179800
OMIM = Online Medalian Inheritance of Men
18
17q21-q22
  • sodium bicarbonate
not rare autosomal dominant autosomal recessive mutations in the chloride-bicarbonate exchanger gene AE1 (SLC4A1) in association with autosomal dominant dRTA [Cheidde et al 2003, Toye et al. 2004]
symptoms
dehydration
failure to thrive
infections (urinary tract)
metabolic acidosis
nephrocalcinosis
onset, adult
onset, child
onset, infant
vomiting
laboratory finding
Potassium2.503.003.505.50mmol/lserum
pH6.007.00 no uniturineno data
Chloride 98.00106.00increasedserum
pH7.207.307.357.45no unitblood
Calcium 1.303.80increasedurine
Literature
Clayton PTet al.Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometryArch Dis Child792109-1151998
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Thomason MJet al.A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolismJ Public Health Med203331-3431998
Yeung CYHypoglycemia in neonatal sepsisJ Pediatr770812-8171970
Tsikas Det al.Specific and rapid quantification of 8-iso-prostaglandin F2alpha in urine of healthy humans and patients with Zellweger syndrome by gas chromatography-tandem mass spectrometryJ Chromatogr B Biomed Sci Appl71607-171998
Chace DHet al.Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hoursClin Chem4402405-24091998
Thomason MJet al.A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolismJ Public Health Med203331-3431998