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

This descriptive study describes the clinical, paraclinical characteristics in children with renal tubular acidosis. In this study, 36 children with renal tubular acidosis were hospitalized in the National Hospital of Pediatrics from June, 2012 to July, 2017. Among the patients, 64.0% were male; the male/female ratio was 1.8/1. The average age of the patients was 7.7 ± 4.6 years. There were 29 type 1 renal tubular acidosis patients (80.6%) and 7 type 2 renal tubular acidosis (19.6%). The most common clinical signs were slow weight gain (100%), polyuria and vomiting were 25.7%, excessive water drinking (16.7%), diarrhea (13.9%), weak lower limb (11.1%), and apnea (8.3%). The laboratory values on admission were: blood pH 7.23 ± 0.11; HCO3- 12.5 ± 5.07; serum sodium 136 ± 7mmol/l; potassium 2.9 ± 0.5 mmol/l; chloride 112 ± 9 mmol/l. The study concludes that 53.8% of the clinical, paraclinical characteristics in children with Renal Tubular Acidosis were inconspicuousness, which effected the children’s growth. The study recommends a long-term strategy for diagnosis and follow–up treatment of renal tubular acidosis. Keywords Renal tubular acidosis, Fanconi syndrome. References [1] Edyta Golembiewska and Kazimierz Ciechanowski, Renal tubular acidosis—underrated problem?, Acta biochimica polonica. 59(2) (2012) 213-215.[2] WHO (2011), Haemoglobin concentrations for the diagnosis of annaemia and assessment of severity, VMNIS, 1.[3] A.P. Sharma, R.K. Sharma, R. Kapoor, et al, Incomplete distal renal tubular acidosis affects growth in children, Nephrol Dial Transplant. 22 (10) (2007) 2879-2783.[4] WHO Child Growth Standards: Methods and development, tại trang web http://www.who.int/childgrowth/standards/technical_report/en/, truy cập ngày 30/10/2018.[5] A. Bagga Bajpai, P. Hari, A. Bardia, et al, Long-term outcome in children with primary distal renal tubular acidosis, Indian Pediatr. 42(4) 321 -328.[6] J.C. Chan, F. Santos, Renal tubular acidosis in children, Diagnosiseatment and prognosis., Am J Nephrol. 6(4) (2005) 289-294.[7] Symptoma Renal Tubular Acidosisuy, tại trang web https://www.symptoma.com/en/info/renal-tubular-acidosis, truy cập ngày 30/10/2018.[8] Julian Yaxley, Christine Pirrone, Review of the Diagnostic Evaluation of Renal Tubular Acidosis, Ochsner J. 16(4) (2016) 525-232.[9] Pramod Sood, Gunchan Paul, and Sandeep Puril, Interpretation of arterial blood gas, Indian J Crit Care Med. 14(2) (2010) 57-63.[10] J.L. Wilson, A.M. Butler, S. Farber, Dehydration and acidosis with calcification at renal tubules, The Journal of Pediatrics. 8 (2006) 489-494.

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THE EFFECT OF LONG TERM ALKALI THERAPY FOR RECURRENT CALCIUM STONE PATIENTS WITH DISTAL RENAL TUBULAR ACIDOSIS

The Japanese Journal of Urology ◽

10.5980/jpnjurol1989.84.674 ◽

1993 ◽

Vol 84 (4) ◽

pp. 674-679

Author(s):

Seiji Yamaguchi ◽

Takuo Koide ◽

Masato Utsunomiya ◽

Toshiaki Yoshioka ◽

Akihiko Okuyama

Keyword(s):

Renal Tubular Acidosis ◽

Distal Renal Tubular Acidosis ◽

Calcium Stone ◽

Alkali Therapy ◽

Renal Tubular

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A Pediatric Case of Long-term Untreated Distal Renal Tubular Acidosis

Childhood Kidney Diseases ◽

10.3339/jkspn.2020.24.2.115 ◽

2020 ◽

Vol 24 (2) ◽

pp. 115-119

Author(s):

Philavanh Kedsatha ◽

Hee Young Shin ◽

Yong Choi ◽

Hae Il Cheong ◽

Tae-Joon Cho ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Distal Renal Tubular Acidosis ◽

Pediatric Case ◽

Renal Tubular

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Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

Clinical Genetics ◽

10.1111/j.1399-0004.2006.00559.x ◽

2006 ◽

Vol 69 (2) ◽

pp. 135-144 ◽

Cited By ~ 15

Author(s):

M Feldman ◽

M Prikis ◽

Y Athanasiou ◽

A Elia ◽

A Pierides ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Sensorineural Deafness ◽

Distal Renal Tubular Acidosis ◽

Greek Cypriot ◽

Molecular Investigation ◽

Atp6v1b1 Gene ◽

Renal Tubular

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P0003ADHERENCE BENEFITS OF ADV7103, AN INNOVATIVE PROLONGED-RELEASE ORAL COMBINATION PRODUCT, IN PATIENTS WITH DISTAL RENAL TUBULAR ACIDOSIS

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfaa142.p0003 ◽

2020 ◽

Vol 35 (Supplement_3) ◽

Author(s):

Aurélia Bertholet-Thomas ◽

Catherine Guittet ◽

Maria Asunción Manso-Silván ◽

Victor Navas Serrano ◽

Luc André Granier ◽

...

Keyword(s):

Quality Of Life ◽

Renal Tubular Acidosis ◽

Potassium Citrate ◽

Distal Renal Tubular Acidosis ◽

Prolonged Release ◽

Open Label ◽

Advanced Therapy ◽

Renal Tubular

Abstract Background and Aims Distal renal tubular acidosis (dRTA) is a rare disorder leading to impaired net acid excretion by the kidney inducing hyperchloremic metabolic acidosis and hypokalemia. The therapeutic effect of the standard of care is of short duration and requires multiple day and night administrations; it is also often accompanied by gastrointestinal discomfort and poor palatability impacting medication adherence. ADV7103, the first advanced therapy for dRTA, consists of a combination of prolonged-release potassium citrate and prolonged-release potassium bicarbonate granules providing round-the-clock alkali and potassium coverage with twice daily administration. Long-term adherence with ADV7103 is reported, along with acceptability of the product. Method B22CS is a multicentre, open-label long-term extension study, evaluating safety, tolerability, acceptability and efficacy of ADV7103 in adult and paediatric patients with dRTA. Adherence was assessed at each study visit up to 24 months, based on accountability of study drug retrieval, laboratory results, and interview of the patients in a diary and expressed as the proportion of patients that presented adherence lower than 50%, between 50% and 74%, between 75 and 90%, and higher than to 90%. Treatment acceptability as well as quality of life of the patients and their parents were assessed using a 100-mm visual analogue scales (VAS). Results Table 1 shows the evolution of compliance between Month 6 and Month 24. Overall, of the 29 patients remaining in the study after 24 months, 18 (62%) had adherence rates >90%, 5 (17%) had adherence rates of 75-90%, 6 (21%) had adherence rates of 50-74%, and there were no patients with adherence <50%. Adherence was good in all age groups, with rates of ≥75% in 100% of adults, 63% of adolescents 85% of children, and 67% of infants and toddlers. Compared to the alkalising treatments they had before the study, more than 80% of the patients perceived both the improvement of the formulation and of the number of daily doses at scores ≥ 75 mm. The overall improvement of quality of life reported by the patients was of 89 ± 19 mm and that reported by their parents was of 90 ± 14 mm after 24 months of treatment. Conclusion Adherence to treatment was maintained at a high level throughout the 24 months of the study confirming the good acceptance of ADV7103 therapy.

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