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RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I

RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I
RENAL TUBULAR ACIDOSIS I (dRTA)
179800
OMIM = Online Mendelian Inheritance of Men
18
Band 3 anion transport protein
17q21.31
N25.8
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