RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I

Question 1

What is  RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I?

Accepted Answer

not rare
autosomal dominant
mutation in the SLC4A1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Azidose, renale tubuläre, distale

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 179800

Question 4

Which enzymes are involved?

Accepted Answer

Band 3 anion transport protein

Disease	RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I
Synonym	RENAL TUBULAR ACIDOSIS I (dRTA)
OMIM	179800 OMIM = Online Mendelian Inheritance of Men
Orphanet	18
Protein (UniProt)	Band 3 anion transport protein
Gene locus	17q21.31
ICD	N25.8
Summary	not rare autosomal dominant mutation in the SLC4A1 gene
Laboratory findings	Bicarbonate dec (serum) Calcium inc (urine) Calcium dec (serum) Chloride inc (serum) pH dec (urine) pH dec (blood) Potassium dec (serum) Potassium inc (urine)
Symptoms	bone fractures constipation dehydration failure to thrive growth retardation, poor growth infections (urinary tract) metabolic acidosis muscle weakness nephrocalcinosis onset, adulthood onset, childhood onset, infancy osteomalacia vomiting