Distal renal tubular acidosis type I: A rare genetic disorder
Renal tubular acidosis (RTA) comprises a group of disorders in which the excretion of hydrogen ions or reabsorption of filtered bicarbonate ions is impaired leading to metabolic acidosis with a normal anion gap. Type I or distal RTA is a rare chronic genetic disorder characterized by an inability of...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-07-01
|
| Series: | MRIMS Journal of Health Sciences |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/mjhs.mjhs_79_24 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | Renal tubular acidosis (RTA) comprises a group of disorders in which the excretion of hydrogen ions or reabsorption of filtered bicarbonate ions is impaired leading to metabolic acidosis with a normal anion gap. Type I or distal RTA is a rare chronic genetic disorder characterized by an inability of the distal nephron to secrete hydrogen ions. An 8-year-old female child with normal growth and development till the age of 2 years, when the child was diagnosed with “Vitamin D-deficient rickets” and was put on treatment as per the protocol. At the age of 4 years, in another hospital, she was diagnosed with “Vitamin D-resistant rickets with pathological fractures.” At the age of 8 years, she presented to teaching hospital, with lower respiratory tract infection. The child had features of rickets and bony abnormalities, suggestive of rickets. Investigations revealed persistent metabolic acidosis and hypokalemia. A provisional diagnosis of “distal RTA” was made, and necessary investigations were done, which confirmed the diagnosis. Genetic studies revealed “homozygote for a likely pathogenic gene and transcript: SLC4A1 NM_000342.4 variant: c.2573>A p. Ala858Asp location: exon 19 homozygote.” |
|---|---|
| ISSN: | 2321-7006 2321-7294 |