Long-term follow-up in distal renal tubular acidosis with sensorineural deafness

2000 ◽  
Vol 15 (1-2) ◽  
pp. 63-65 ◽  
Author(s):  
R. Peces
Keyword(s):  
Renal Tubular Acidosis ◽  
Sensorineural Deafness ◽  
Distal Renal Tubular Acidosis ◽  
Long Term Follow Up ◽  
Renal Tubular

scholarly journals Treatment and long-term outcome in primary distal renal tubular acidosis

2019 ◽  
Vol 34 (6) ◽  
pp. 981-991 ◽  
Author(s):  
Sergio Camilo Lopez-Garcia ◽  
Francesco Emma ◽  
Stephen B Walsh ◽  
Marc Fila ◽  
Nakysa Hooman ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Renal Tubular

scholarly journals Acidosis and Deafness in Patients with Recessive Mutations in FOXI1

2017 ◽  
Vol 29 (3) ◽  
pp. 1041-1048 ◽  
Author(s):  
Sven Enerbäck ◽  
Daniel Nilsson ◽  
Noel Edwards ◽  
Mikael Heglind ◽  
Sumaya Alkanderi ◽  
...  
Keyword(s):  
Dna Binding ◽  
Inner Ear ◽  
Renal Tubular Acidosis ◽  
Cultured Cells ◽  
Collecting Duct ◽  
Sensorineural Deafness ◽  
Distal Renal Tubular Acidosis ◽  
Acid Base ◽  
Recessive Mutations ◽  
Renal Tubular

Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription factor FOXI1. In two unrelated consanguineous families, we identified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R213P) predicted to affect the highly conserved DNA binding domain. Patients presented with early-onset sensorineural deafness and distal renal tubular acidosis. In cultured cells, the mutations reduced the DNA binding affinity of FOXI1, which hence, failed to adequately activate genes crucial for normal inner ear function and acid-base regulation in the kidney. A substantial proportion of patients with a clinical diagnosis of inherited distal renal tubular acidosis has no identified causative mutations in currently known disease genes. Our data suggest that recessive mutations in FOXI1 can explain the disease in a subset of these patients.

Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

2021 ◽  
Author(s):  
Sara Gómez-Conde ◽  
Alejandro García-Castaño ◽  
Mireia Aguirre ◽  
María Herrero ◽  
Leire Gondra ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Molecular Aspects ◽  
Renal Tubular

scholarly journals Long-Term Follow-Up of Renal Function in Children after Liver Transplantation—A Single Center Retrospective Study

Children ◽  
2021 ◽  
Vol 8 (8) ◽  
pp. 633
Author(s):  
Grzegorz Kowalewski ◽  
Piotr Kaliciński ◽  
Marek Stefanowicz ◽  
Ryszard Grenda ◽  
Piotr Czubkowski ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Pediatric Patients ◽  
Immunosuppressive Drug ◽  
Blood Concentrations ◽  
Glomerular Function ◽  
Long Term Follow Up ◽  
Renal Tubular ◽  
Long Term Observation

Chronic kidney disease (CKD) is a common complication after liver transplantation (LT). Its prevalence with modern immunosuppression regimens, especially in children, is variable depending on the transplantation era. The study included 61 pediatric patients with at least 10 years of follow-up after liver transplantation remaining under constant care of the Department of Pediatric Surgery and Organ Transplantation. The analysis included several tests: estimated glomerular function (eGFR), results of screening for renal tubular defects and blood concentrations of basic immunosuppressive drug-tacrolimus. CKD was diagnosed in 3% of children at 12 years after LT. The maintaining of tacrolimus concentrations >4 ng/mL in long-term observation was associated with a significant increase of microalbuminuria. The presence of microalbuminuria, regarded as a risk factor of CKD, confirmed the necessity of regular comprehensive assessment of patients in long-term follow-up.

scholarly journals Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família

2019 ◽  
Vol 32 (7-8) ◽  
pp. 542
Author(s):  
Daniela Ramos ◽  
Sofia Reis ◽  
Carolina Cordinhã ◽  
Carmen Do Carmo ◽  
Clara Gomes ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Chronic Renal Disease ◽  
Genetic Disorder ◽  
Distal Renal Tubular Acidosis ◽  
Arterial Blood Gas ◽  
Arterial Blood ◽  
First Case ◽  
Hyperchloremic Metabolic Acidosis ◽  
Renal Tubular

Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied. Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease. But the condition may manifest early and have a variable phenotypic severity spectrum. Carrying out screening through assessment of family history enables an earlier diagnosis while also allowing treatment to start sooner.

scholarly journals Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives

2021 ◽  
Author(s):  
Sara Gómez-Conde ◽  
Alejandro García-Castaño ◽  
Mireia Aguirre ◽  
María Herrero ◽  
Leire Gondra ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Genotypic Correlation ◽  
Renal Tubular

Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute

2021 ◽  
Author(s):  
Lesa Dawman ◽  
Karalanglin Tiewsoh ◽  
Prabal Barman ◽  
Kambagiri Pratyusha ◽  
Lalawmpuia Chaakchhuak ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Serum Potassium ◽  
Age At Onset ◽  
Genetic Defect ◽  
Distal Renal Tubular Acidosis ◽  
Response To Treatment ◽  
Indian Children ◽  
Medullary Nephrocalcinosis ◽  
Renal Tubular

AbstractPrimary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes ATP6V0A4, ATP6V1B1, SLC4A1, FOXI1, or WDR72), which causes tubular transport defects characterized by an inability to appropriately acidify urine with resultant persistent hyperchloremic metabolic acidosis. Retrospective analysis of 28 children (14 males) under the age of 14 years with dRTA seen from 2010 to 2019 was reviewed, and detailed clinic records were analyzed. The clinical features, investigations, and response to treatment were recorded. The median age of the children at presentation was 30 months (range: 9.25–72 months), and the median age at onset of symptoms was 2 months. All the children had growth failure, polyuria, and polydipsia at presentation. Mean serum potassium, pH, bicarbonate, and anion gap at presentation was 2.3 ± 0.5 mmol/L, 7.22 ± 0.09, 13.28 ± 4.37 mmol/L, and 9.3 ± 2.18, respectively. Mean serum potassium, pH, bicarbonate at follow-up was 3.88 ± 0.6 mmol/L, 7.35 ± 0.06, and 20.13 ± 4.17 mmol/L, respectively. The median z-score for the weight for age and height for age at initial presentation was −4.77 (–7.68 to –3.74) and –4.21 (–5.42 to –2.37) and at follow-up was –3.35 (–5.29 to –1.55) and –3.84 (–5.36 to –1.63), respectively. Twenty-two (78.6%) children had medullary nephrocalcinosis. Four children had sensorineural hearing loss. Seven children had genetic testing done, and six had pathogenic or likely pathogenic variants in ATP6V1B1 and ATP6V0A4 gene. Children with dRTA have a guarded prognosis and ATP6V1B1 and ATP6V0A4 mutations are the most common implicated genetic defect in Indian children with distal RTA.

scholarly journals Distal Renal Tubular Acidosis in Adolescence with Severe Growth Retardation and Nephrocalcinosis

2012 ◽  
Vol 52 (187) ◽  
Author(s):  
M R Sigdel ◽  
M P Kafle ◽  
K B Raut
Keyword(s):  
Metabolic Acidosis ◽  
Weight Gain ◽  
Renal Tubular Acidosis ◽  
Growth Retardation ◽  
Growth Velocity ◽  
Distal Renal Tubular Acidosis ◽  
Alkali Therapy ◽  
Renal Tubular ◽  
Severe Growth

Chronic acidosis is an important, often overlooked cause of growth retardation. Here we present the case of a girl with distal renal tubular acidosis who had visited multiple hospitals before the diagnosis was made. She presented to us in adolescence with non anion gap metabolic acidosis, hypokalemia, severe growth retardation and nephrocalcinosis. In 18 months follow up with alkali therapy, she had good weight gain and growth velocity. Keywords: growth retardation; hypokalemia; nephrocalcinosis; renal tubular acidosis.

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