Etiology and outcomes of primary renal tubular acidosis

Bagga A, Sinha A (2020) Renal tubular acidosis. Indian J Pediatr 87:733–744. https://doi.org/10.1007/s12098-020-03318-8

Article  PubMed  Google Scholar 

Khositseth S, Sirikanaerat A, Khoprasert S et al (2008) Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. Am J Hematol 83:465–471. https://doi.org/10.1002/ajh.21151

Article  CAS  PubMed  Google Scholar 

Sinha R, Agarwal I, Bawazir WM, Bruce LJ (2013) Distal renal tubular acidosis with hereditary spherocytosis. Indian Pediatr 50:693–695. https://doi.org/10.1007/s13312-013-0173-2

Article  PubMed  Google Scholar 

More TA, Kedar PS (2021) Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular acidosis (dRTA) coupled with hemolytic anemia. Gene 769:145241. https://doi.org/10.1016/j.gene.2020.145241

Article  CAS  PubMed  Google Scholar 

Sethi SK, Bagga A, Gulati A et al (2008) Mutations in OCRL1 gene in Indian children with Lowe syndrome. Clin Exp Nephrol 12:358–362. https://doi.org/10.1007/s10157-008-0059-0

Article  CAS  PubMed  Google Scholar 

Bhardwaj S, Thergaonkar R, Sinha A et al (2016) Phenotype of Dent disease in a cohort of Indian children. Indian Pediatr 53:977–982. https://doi.org/10.1007/s13312-016-0971-4

Article  PubMed  Google Scholar 

Govindarajan S, Khandelwal P, Sharma S et al (2023) Clinical features and genetic sequencing of children with Fanconi-Bickel syndrome. Indian J Pediatr 90:178–180. https://doi.org/10.1007/s12098-022-04372-0

Article  PubMed  Google Scholar 

Dohil R, Gangoiti JA, Cabrera BL et al (2010) Long-term treatment of cystinosis in children with twice-daily cysteamine. J Pediatr 156:823–827. https://doi.org/10.1016/j.jpeds.2009.11.059

Article  CAS  PubMed  Google Scholar 

Greco M, Brugnara M, Zaffanello M et al (2010) Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. Pediatr Nephrol 25:2459–2467. https://doi.org/10.1007/s00467-010-1641-8

Article  PubMed  Google Scholar 

Raut S, Khandelwal P, Sinha A et al (2020) Infantile nephropathic cystinosis: Clinical features and outcome. Asian J Pediatr Nephrol 3:15. https://doi.org/10.4103/AJPN.AJPN_10_20

Article  Google Scholar 

Bajpai A, Bagga A, Hari P et al (2005) Long-term outcome in children with primary distal renal tubular acidosis. Indian Pediatr 42:321–328

PubMed  Google Scholar 

Watanabe T (2018) Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. Pediatric Health Med Ther 9:181–190. https://doi.org/10.2147/PHMT.S174459

Article  CAS  PubMed  PubMed Central  Google Scholar 

Santos F, Gil-Peña H (2023) Long-term complications of primary distal renal tubular acidosis. Pediatr Nephrol 38:635–642. https://doi.org/10.1007/s00467-022-05546-w

Article  PubMed  Google Scholar 

Schwartz GJ, Muñoz A, Schneider MF et al (2009) New equations to estimate GFR in children with CKD. J Am Soc Nephrol 20:629–637. https://doi.org/10.1681/ASN.2008030287

Article  PubMed  PubMed Central  Google Scholar 

Inker LA, Eneanya ND, Coresh J et al (2021) New creatinine- and cystatin C-based equations to estimate GFR without race. N Engl J Med 385:1737–1749. https://doi.org/10.1056/NEJMoa2102953

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kashoor I, Batlle D (2019) Proximal renal tubular acidosis with and without Fanconi syndrome. Kidney Res Clin Pract 38:267–281. https://doi.org/10.23876/j.krcp.19.056

Article  PubMed  PubMed Central  Google Scholar 

Lemaire M (2021) Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology. Am J Physiol Renal Physiol 320:F145–F160. https://doi.org/10.1152/ajprenal.00214.2020

Article  CAS  PubMed  Google Scholar 

Trepiccione F, Walsh SB, Ariceta G et al (2021) Distal renal tubular acidosis: ERKNet/ESPN clinical practice points. Nephrol Dial Transplant 36:1585–1596. https://doi.org/10.1093/ndt/gfab171

Article  CAS  PubMed  Google Scholar 

Marik B, Bagga A, Sinha A et al (2022) Genetic and clinical profile of patients with hypophosphatemic rickets. Eur J Med Genet 65:104540. https://doi.org/10.1016/j.ejmg.2022.104540

Article  CAS  PubMed  Google Scholar 

WHO Multicentre Growth Reference Study Group (2006) Enrolment and baseline characteristics in the WHO Multicentre Growth Reference Study. Acta Paediatr Suppl 450:7–15. https://doi.org/10.1111/j.1651-2227.2006.tb02371.x

Article  Google Scholar 

Indian Academy of Pediatrics Growth Charts Committee, Khadilkar V, Yadav S et al (2015) Revised IAP growth charts for height, weight and body mass index for 5- to 18-year-old Indian children. Indian Pediatr 52:47–55. https://doi.org/10.1007/s13312-015-0566-5

Article  Google Scholar 

Kidney Disease Improving Global Outcomes (KDIGO) CKD Work Group (2024) KDIGO 2024 Clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int 105:S117–S314. https://doi.org/10.1016/j.kint.2023.10.018

Article  Google Scholar 

Carl AC, Hohman MH, Cornejo J (2024) Audiology pure tone evaluation. In: StatPearls. StatPearls Publishing

Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Biesecker LG, Byrne AB, Harrison SM et al (2024) ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification. Am J Hum Genet 111:24–38. https://doi.org/10.1016/j.ajhg.2023.11.009

Article  CAS  PubMed  Google Scholar 

Bockenhauer D, Lopez-Garcia SC, Walsh SB (2022) Renal tubular acidosis. In: Emma F, Goldstein SL, Bagga A et al (eds) Pediatric Nephrology. Springer International Publishing, pp 903–928

Chapter  Google Scholar 

Lopez-Garcia SC, Emma F, Walsh SB et al (2019) Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol Dial Transplant 34:981–991. https://doi.org/10.1093/ndt/gfy409

Article  CAS  PubMed  Google Scholar 

Khandelwal P, Mahesh V, Mathur VP et al (2021) Phenotypic variability in distal acidification defects associated with WDR72 mutations. Pediatr Nephrol 36:881–887. https://doi.org/10.1007/s00467-020-04747-5

Article  PubMed  Google Scholar 

Khandelwal P, Sinha A, Jain V et al (2018) Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. CEN Case Rep 7:1–4. https://doi.org/10.1007/s13730-017-0278-x

Article  CAS  PubMed  Google Scholar 

Satapathy AK, Pandey S, Chaudhary MR et al (2019) Report of another mutation proven case of carbonic anhydrase II deficiency. J Pediatr Genet 8:91–94. https://doi.org/10.1055/s-0038-1675781

Article  CAS  PubMed  Google Scholar 

Palazzo V, Provenzano A, Becherucci F et al (2017) The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. Kidney Int 91:1243–1255. https://doi.org/10.1016/j.kint.2016.12.017

Article  CAS  PubMed  Google Scholar 

Alonso-Varela M, Gil-Peña H, Coto E et al (2018) Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatr Nephrol 33:1523–1529. https://doi.org/10.1007/s00467-018-3965-8

Article  PubMed 

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