Autosomal dominant distal renal tubular…

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Autosomal dominant distal renal tubular acidosis

ORPHA:93608Clinical subtype

Also called AD dRTA

What it is

A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.

Key facts

Age of onset
Adolescent, Adult
Inheritance
Autosomal dominant
Classified as
Clinical subtype

Gene

SLC4A1Disease-causing germline mutation(s)

ICD-10 codes

N25.8filed under a broader ICD-10 category — shared with 17 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 4668MONDO 0008368OMIM 179800

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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