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Molecular aspects of distal kidney tubular acidosis in children, its long-term outcome, and relationship with hyperammonemia

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dc.contributor.authorGÖKCE, İBRAHİM
dc.contributor.authorATA, PINAR
dc.contributor.authorYILDIZ, NURDAN
dc.contributor.authorsGüven S., Gökçe İ., Alavanda C., Öztürk Hişmi B., Çiçek N., Bodur Demirci E., Sak M., Yıldız N., Ata P., Alpay H.
dc.date.accessioned2023-07-19T07:40:39Z
dc.date.available2023-07-19T07:40:39Z
dc.date.issued2022-07-01
dc.description.abstractObjective: 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.
dc.identifier.citationGüven 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
dc.identifier.doi10.5152/turkarchpediatr.2022.21362
dc.identifier.endpage440
dc.identifier.issn2757-6256
dc.identifier.issue4
dc.identifier.startpage432
dc.identifier.urihttps://turkarchpediatr.org/en/molecular-aspects-of-distal-kidney-tubular-acidosis-in-children-its-long-term-outcome-and-relationship-with-hyperammonemia-131392
dc.identifier.urihttps://hdl.handle.net/11424/291362
dc.identifier.volume57
dc.language.isoeng
dc.relation.ispartofTURKISH ARCHIVES OF PEDIATRICS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectSağlık Bilimleri
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectChild Health and Diseases
dc.subjectHealth Sciences
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectPEDIATRICS
dc.subjectCLINICAL MEDICINE
dc.subjectClinical Medicine (MED)
dc.subjectPediatri
dc.subjectPediatri, Perinatoloji ve Çocuk Sağlığı
dc.subjectPediatrics
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectDistal kidney tubular acidosis
dc.subjectgenetics
dc.subjectchildren
dc.subjecthyperammonemia
dc.subjectSENSORINEURAL HEARING-LOSS
dc.subjectATP6B1 GENE
dc.subjectMUTATIONS
dc.subjectATP6V0A4
dc.subjectDEAFNESS
dc.subjectSUBUNIT
dc.subjectBAND-3
dc.subjectDistal kidney tubular acidosis
dc.subjectgenetics
dc.subjectchildren
dc.subjecthyperammonemia
dc.titleMolecular aspects of distal kidney tubular acidosis in children, its long-term outcome, and relationship with hyperammonemia
dc.typearticle
dspace.entity.typePublication
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local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atSCOPUS
local.indexed.atTRDIZIN
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relation.isAuthorOfPublication.latestForDiscoveryee5d20d0-d1cb-4dfa-9d4d-6366f8806a00

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