Publication: Molecular aspects of distal kidney tubular acidosis in children, its long-term outcome, and relationship with hyperammonemia
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Date
2022-07-01
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Abstract
Objective: We aimed to present the characteristics, genetic analysis results, long-term prognosis of our patients with distal kidney tubular acidosis, and the relationship between hyperammonemia and distal kidney tubular acidosis.
Materials and Methods: Biochemical, clinical, and imaging findings were collected at presentation and the last clinic visit, and results of the genetic analysis were recorded.
Results: Our study included 9 patients (3 female, 33%). The median age at diagnosis was
3 months, and the median follow-up period was 111 months. Height standard deviation
scores were less than −2 in 4 (44%) patients at presentation and in 3 (33%) at the last clinic
visit. The median estimated glomerular filtration rate was 98 mL/min/1.73 m2
at presentation
and 126 mL/min/1.73 m2
at the last clinic visit. We have found 8 different types of mutations of
2 genes, including 6 in the ATP6V0A4 gene, 2 in the SLCA4A1 gene, and 2 of them were novel. At
the time of presentation, nephrocalcinosis and hypercalciuria were present in all our patients,
but at the last visit, only 1 patient had hypercalciuria. Sensorineural hearing loss was found in
4 of our patients with a mutation in the ATP6V0A4 gene. Serum ammonia levels were found to
be high in 3 patients with mutations in the ATP6V0A4 gene.
Conclusion: Adequate metabolic control is essential for optimal growth and preserved kidney
function in distal kidney tubular acidosis patients. Distal kidney tubular acidosis may be associated with hyperammonemia. We recommend keeping potassium levels at high-normal levels
to reduce ammonia levels, especially in the absence of acidosis.
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Keywords
Tıp, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Sağlık Bilimleri, Medicine, Internal Medicine Sciences, Child Health and Diseases, Health Sciences, PEDİATRİ, Klinik Tıp, Klinik Tıp (MED), PEDIATRICS, CLINICAL MEDICINE, Clinical Medicine (MED), Pediatri, Pediatri, Perinatoloji ve Çocuk Sağlığı, Pediatrics, Pediatrics, Perinatology and Child Health, Distal kidney tubular acidosis, genetics, children, hyperammonemia, SENSORINEURAL HEARING-LOSS, ATP6B1 GENE, MUTATIONS, ATP6V0A4, DEAFNESS, SUBUNIT, BAND-3, Distal kidney tubular acidosis, genetics, children, hyperammonemia
Citation
Güven S., Gökçe İ., Alavanda C., Öztürk Hişmi B., Çiçek N., Bodur Demirci E., Sak M., Yıldız N., Ata P., Alpay H., "Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia", TURKISH ARCHIVES OF PEDIATRICS, cilt.57, sa.4, ss.432-440, 2022