Research & Literature

Clinical evaluation of Chinese patients with primary distal renal tubular acidosis.

Zhang C, Ren H, Shen P, et al.

Internal medicine (Tokyo, Japan) 2015; (54(7)):725-30 doi:10.2169/internalmedicine.54.9421.

Deficient acid handling with distal RTA in the NBCe2 knockout mouse.

Wen D, Yuan Y, Cornelius RJ, et al.

American journal of physiology. Renal physiology 2015; (309(6)):F523-30 doi:10.1152/ajprenal.00163.2015.

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

Escobar LI, Simian C, Treard C, et al.

Molecular genetics & genomic medicine 2016; (4(3)):303-11 doi:10.1002/mgg3.205.

Recurrent Attacks of Hypokalemic Quadriparesis: An Unusual Presentation of Primary Sjögren Syndrome.

Seirafian S, Shafie M, Abedini A, et al.

Internal medicine (Tokyo, Japan) 2016; (55(13)):1797-800 doi:10.2169/internalmedicine.55.6453.

Distal renal tubular acidosis without renal impairment after use of tenofovir: a case report.

Iwata K, Nagata M, Watanabe S, Nishi S

BMC pharmacology & toxicology 2016; (17(1)):52 doi:10.1186/s40360-016-0100-y.

Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.

Mumtaz R, Trepiccione F, Hennings JC, et al.

Journal of the American Society of Nephrology : JASN 2017; (28(5)):1507-1520 doi:10.1681/ASN.2016020169.

Clinical and molecular aspects of distal renal tubular acidosis in children.

Besouw MTP, Bienias M, Walsh P, et al.

Pediatric nephrology (Berlin, Germany) 2017; (32(6)):987-996 doi:10.1007/s00467-016-3573-4.

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

Palazzo V, Provenzano A, Becherucci F, et al.

Kidney international 2017; (91(5)):1243-1255 doi:10.1016/j.kint.2016.12.017.

Furosemide/Fludrocortisone Test and Clinical Parameters to Diagnose Incomplete Distal Renal Tubular Acidosis in Kidney Stone Formers.

Dhayat NA, Gradwell MW, Pathare G, et al.

Clinical journal of the American Society of Nephrology : CJASN 2017; (12(9)):1507-1517 doi:10.2215/CJN.01320217.

Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.

Mohebbi N, Wagner CA

Journal of nephrology 2018; (31(4)):511-522 doi:10.1007/s40620-017-0447-1.

Renal Tubular Acidosis in Patients with Primary Sjögren's Syndrome.

Jung SW, Park EJ, Kim JS, et al.

Electrolyte & blood pressure : E & BP 2017; (15(1)):17-22 doi:10.5049/EBP.2017.15.1.17.

Recurrent Hypokalemia leading to Flaccid Quadriparesis: A Renal or Connective Tissue Disorder.

Bansal N, Kumar PA, Agarwal MP, Aggarwal A

Puerto Rico health sciences journal 2017; (36(4)):240-242.

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Enerbäck S, Nilsson D, Edwards N, et al.

Journal of the American Society of Nephrology : JASN 2018; (29(3)):1041-1048 doi:10.1681/ASN.2017080840.

Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis.

Pathare G, Dhayat NA, Mohebbi N, et al.

Kidney international 2018; (93(4)):871-880 doi:10.1016/j.kint.2017.10.018.

Rare Renal Disease in Macedonia - An Update.

Tasic V, Gucev Z, Polenakovic M

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) 2017; (38(3)):63-69.

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.

Alonso-Varela M, Gil-Peña H, Coto E, et al.

Pediatric nephrology (Berlin, Germany) 2018; (33(9)):1523-1529 doi:10.1007/s00467-018-3965-8.

Hypokalemic Distal Renal Tubular Acidosis.

Vallés PG, Batlle D

Advances in chronic kidney disease 2018; (25(4)):303-320 doi:10.1053/j.ackd.2018.05.003.

Hyperkalemic Forms of Renal Tubular Acidosis: Clinical and Pathophysiological Aspects.

Batlle D, Arruda J

Advances in chronic kidney disease 2018; (25(4)):321-333 doi:10.1053/j.ackd.2018.05.004.

Incomplete Distal Renal Tubular Acidosis and Kidney Stones.

Fuster DG, Moe OW

Advances in chronic kidney disease 2018; (25(4)):366-374 doi:10.1053/j.ackd.2018.05.007.

Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.

Liu J, Shen Q, Li G, et al.

Renal failure 2018; (40(1)):520-526 doi:10.1080/0886022X.2018.1487858.

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.

Zhao X, Lu J, Gao Y, et al.

BMC nephrology 2018; (19(1)):364 doi:10.1186/s12882-018-1173-1.

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.

Watanabe T

Pediatric health, medicine and therapeutics 2018; (9()):181-190 doi:10.2147/PHMT.S174459.

Caregiver Experience in Pediatric Dialysis.

Wightman A, Zimmerman CT, Neul S, et al.

Pediatrics 2019; (143(2)) doi:10.1542/peds.2018-2102.

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

Lopez-Garcia SC, Emma F, Walsh SB, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2019; (34(6)):981-991 doi:10.1093/ndt/gfy409.

Distal renal tubular acidosis: genetic causes and management.

Soares SBM, de Menezes Silva LAW, de Carvalho Mrad FC, Simões E Silva AC

World journal of pediatrics : WJP 2019; (15(5)):422-431 doi:10.1007/s12519-019-00260-4.

Hyperchloremic normal gap metabolic acidosis.

Palmer BF, Clegg DJ

Minerva endocrinologica 2019; (44(4)):363-377 doi:10.23736/S0391-1977.19.03059-1.

A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.

Yuan J, Huang K, Wu W, et al.

Medicine 2019; (98(30)):e16504 doi:10.1097/MD.0000000000016504.

Proximal renal tubular acidosis with and without Fanconi syndrome.

Kashoor I, Batlle D

Kidney research and clinical practice 2019; (38(3)):267-281 doi:10.23876/j.krcp.19.056.

Combination of furosemide and fludrocortisone as a loading test for diagnosis of distal renal tubular acidosis in a pediatric case.

Kyono Y, Nozu K, Nakagawa T, et al.

CEN case reports 2020; (9(1)):81-86 doi:10.1007/s13730-019-00432-1.

A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis.

Anupama PH, Abraham G, Shanmugasundaram L, Anupama SH

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2019; (30(6)):1442-1446 doi:10.4103/1319-2442.275490.

Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing.

Khan N, Akhtar N, Khan FF, et al.

Genetic testing and molecular biomarkers 2020; (24(2)):85-91 doi:10.1089/gtmb.2019.0195.

Incomplete distal renal tubular acidosis in children.

Alonso-Varela M, Gil-Peña H, Santos F

Acta paediatrica (Oslo, Norway : 1992) 2020; (109(11)):2243-2250 doi:10.1111/apa.15269.

A patient with chronic kidney disease, primary biliary cirrhosis and metabolic acidosis.

Elitok S, Sidler M, Bieringer M, et al.

Clinical kidney journal 2020; (13(3)):463-467 doi:10.1093/ckj/sfz059.

Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments.

Bertholet-Thomas A, Guittet C, Manso-Silván MA, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(1)):83-91 doi:10.1007/s00467-020-04693-2.

Renal Tubular Acidosis and Immune Checkpoint Inhibitor Therapy: An Immune-Related Adverse Event of PD-1 Inhibitor-A Report of 3 Cases.

Herrmann SM, Alexander MP, Romero MF, Zand L

Kidney medicine 2020; (2(5)):657-662 doi:10.1016/j.xkme.2020.05.015.

Renal Tubular Acidosis in Patients with Systemic Lupus Erythematosus.

Eren N, Gungor O, Sarisik FN, et al.

Kidney & blood pressure research 2020; (45(6)):883-889 doi:10.1159/000509841.

[Renal involvement in Sjögren's syndrome].

François H, Mariette X

Nephrologie & therapeutique 2020; (16(7)):440-452 doi:10.1016/j.nephro.2020.10.002.

Renal tubular acidosis (RTA) and kidney stones: Diagnosis and management.

Magni G, Unwin RJ, Moochhala SH

Archivos espanoles de urologia 2021; (74(1)):123-128.

Safety, efficacy, and acceptability of ADV7103 during 24 months of treatment: an open-label study in pediatric and adult patients with distal renal tubular acidosis.

Bertholet-Thomas A, Guittet C, Manso-Silván MA, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(7)):1765-1774 doi:10.1007/s00467-020-04873-0.

Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.

Giglio S, Montini G, Trepiccione F, et al.

Journal of nephrology 2021; (34(6)):2073-2083 doi:10.1007/s40620-021-01032-y.

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

Gómez-Conde S, García-Castaño A, Aguirre M, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(10)):3133-3142 doi:10.1007/s00467-021-05066-z.

Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.

Trepiccione F, Walsh SB, Ariceta G, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021; (36(9)):1585-1596 doi:10.1093/ndt/gfab171.

Hypokalaemic paralysis as the initial clinical presentation of Sjogren's syndrome induced distal renal tubular acidosis.

Kielty JM, Ryan P, Sexton D, Kelly YP

BMJ case reports 2021; (14(5)) doi:10.1136/bcr-2020-241300.

Prospective long-term evaluation of incomplete distal renal tubular acidosis in idiopathic calcium nephrolithiasis diagnosed by low-dose NH4CL loading - gender prevalences and impact of alkali treatment.

Sromicki J, Kacl G, Föhl M, Hess B

Journal of nephrology 2022; (35(6)):1619-1626 doi:10.1007/s40620-021-01207-7.

Distal Renal Tubular Acidosis Associated with Autoimmune Diseases: Reports of 3 Cases and Review of Mechanisms.

Silveira MAD, Seguro AC, Gomes SA, et al.

The American journal of case reports 2022; (23()):e933957 doi:10.12659/AJCR.933957.

Distal Renal Tubular Acidosis due to Primary Sjögren's Syndrome: Presents as Hypoakalemic Paralysis with Hypokalemia-Induced Nephrogenic Diabetes Insipidus.

Patel JK

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2021; (32(3)):851-854 doi:10.4103/1319-2442.336782.

Renal Tubular Acidosis Manifesting as Severe Metabolic Bone Disease.

Boro H, Khatiwada S, Alam S, et al.

TouchREVIEWS in endocrinology 2021; (17(1)):59-67 doi:10.17925/EE.2021.17.1.59.

Secondary distal renal tubular acidosis and sclerotic metabolic bone disease in seronegative spondyloarthropathy.

Agrawal N, Mahata R, Chakraborty PP, Basu K

BMJ case reports 2022; (15(3)) doi:10.1136/bcr-2021-248712.

Lived experiences of patients with distal renal tubular acidosis treated with ADV7103 and of their caregivers: a qualitative study.

Acquadro M, Marrel A, Manso-Silván MA, et al.

Orphanet journal of rare diseases 2022; (17(1)):141 doi:10.1186/s13023-022-02294-w.

Long-term complications of primary distal renal tubular acidosis.

Santos F, Gil-Peña H

Pediatric nephrology (Berlin, Germany) 2023; (38(3)):635-642 doi:10.1007/s00467-022-05546-w.

Young Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues.

Alhasan K, D'Alessandri-Silva C, Mongia A, et al.

Advances in chronic kidney disease 2022; (29(3)):292-307 doi:10.1053/j.ackd.2021.11.004.

Distal Renal Tubular Acidosis in Patients with Autoimmune Diseases-An Update on Pathogenesis, Clinical Presentation and Therapeutic Strategies.

Ungureanu O, Ismail G

Biomedicines 2022; (10(9)) doi:10.3390/biomedicines10092131.

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

Gómez-Conde S, García-Castaño A, Aguirre M, et al.

Nefrologia 2021; (41(4)):383-390 doi:10.1016/j.nefroe.2021.09.004.

[Epidemiological, clinical and evolutionary particularities of primary distal tubular acidosis in Tunisian children].

Hammi Y, Charfi H, Ferjani M, et al.

Nephrologie & therapeutique 2022; (18(6)):541-548 doi:10.1016/j.nephro.2022.03.006.

Bone mineral density and growth changes in patients with distal renal tubular acidosis after two-years treatment with a new alkalizing drug (ADV7103).

Bertholet-Thomas A, Manso-Silván MA, Navas-Serrano V, et al.

Nefrologia 2023; (43(4)):458-466 doi:10.1016/j.nefroe.2022.02.012.

The pathophysiology of distal renal tubular acidosis.

Wagner CA, Unwin R, Lopez-Garcia SC, et al.

Nature reviews. Nephrology 2023; (19(6)):384-400 doi:10.1038/s41581-023-00699-9.

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.

Ay E, Gurses E, Aslan F, et al.

Audiology & neuro-otology 2023; (28(5)):350-359 doi:10.1159/000529486.

Quadriparesis and Broad Complex Tachycardia Secondary to Severe Hypokalaemia Induced by Distal Renal Tubular Acidosis as the Initial Manifestation of Sjogren's Syndrome.

Kaeley N, Gangdev AM, Datta SS, Singh UP

Cureus 2023; (15(5)):e38984 doi:10.7759/cureus.38984.

Distal renal tubular acidosis as a rare complication of vesicoureteral reflux in children: a case report and literature review.

Leventoğlu E

CEN case reports 2024; (13(6)):489-494 doi:10.1007/s13730-024-00873-3.

Hypocitraturia as a biomarker of renal tubular acidosis in patients with Sjögren's disease.

Coradin R, Lopes MLL, Goldani JC, et al.

Advances in rheumatology (London, England) 2024; (64(1)):45 doi:10.1186/s42358-024-00387-7.

Primary Distal Renal Tubular Acidosis: Toward an Optimal Correction of Metabolic Acidosis.

Medina E, Ariceta G, Batlle D

Clinical journal of the American Society of Nephrology : CJASN 2024; (19(9)):1212-1222 doi:10.2215/CJN.0000000000000535.

SGLT2 Inhibitor Use for Treatment of Hypocitraturia in a Distal Renal Tubular Acidosis.

Scherr S, Ksiazek SH, Schwarz C, Säemann MD

Kidney medicine 2024; (6(7)):100839 doi:10.1016/j.xkme.2024.100839.

Hypokalemic quadriplegia in Sjogren's syndrome: A case report.

Mehdipour Dalivand M, Abdolazimi R, Alikhani M

Clinical case reports 2024; (12(8)):e9227 doi:10.1002/ccr3.9227.

Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.

Deepthi B, Krishnasamy S, Krishnamurthy S, et al.

Pediatric nephrology (Berlin, Germany) 2025; (40(2)):407-416 doi:10.1007/s00467-024-06478-3.

Recent Developments in the Treatment of Pediatric Distal Renal Tubular Acidosis.

Boyer O, Ould Rabah M, Preka E

Paediatric drugs 2024; (26(6)):649-657 doi:10.1007/s40272-024-00651-9.

Severe Hypokalemia and Respiratory Muscle Paralysis: An Atypical Manifestation of Primary Sjögren's Syndrome.

Sobrosa P, Ferreira Â, Vilar da Mota R, et al.

Cureus 2024; (16(12)):e76240 doi:10.7759/cureus.76240.

Bone microarchitecture using HR-pQCT in adult patients with renal tubular acidosis presenting with rickets/osteomalacia.

Arjunan D, Mukherjee S, Bhadada SK, et al.

Archives of osteoporosis 2025; (20(1)):63 doi:10.1007/s11657-025-01545-0.

Sjogren's Syndrome in the Mask of Hypokalemia: A Case Report.

Sodari KB, Basnet P, Adhikari K

JNMA; journal of the Nepal Medical Association 2024; (62(280)):841-843 doi:10.31729/jnma.8836.

Urine pH and urine ammonium as biomarkers in kidney disease.

Kim GH, Han JS

Kidney & blood pressure research 2025; 1-22 doi:10.1159/000547775.

6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosis.

Bertholet-Thomas A, De Mul A, Bernardor J, et al.

Orphanet journal of rare diseases 2025; (20(1)):431 doi:10.1186/s13023-025-03953-4.

Hypokalemic Periodic Paralysis in a Patient With Primary Sjögren's Syndrome and Distal Renal Tubular Acidosis: A Case Report.

Varma V, Patel AK, Pathak N, et al.

Clinical medicine insights. Case reports 2025; (18()):11795476251372407 doi:10.1177/11795476251372407.

Clinical and molecular mechanistic insights into the WDR72 mutation.

Gupta A, Elangovan A, Singh R, Wander A

BMJ case reports 2025; (18(9)) doi:10.1136/bcr-2025-265122.

Distal Renal Tubular Acidosis: A Conundrum of Short Stature, Failure to Thrive, Rickets, and Nephrocalcinosis.

Singhania P, Ponnusamy R, Dhar A, et al.

Cureus 2025; (17(8)):e90337 doi:10.7759/cureus.90337.

Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.

Thakare S, Lila A, Keskar V, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2026; (41(5)):942-955 doi:10.1093/ndt/gfaf222.

Hypokalemic Quadriparesis as the Initial Presentation of Sjögren's Syndrome With Distal Renal Tubular Acidosis: A Case Report.

Sunkari SHB, Nikhare MU, Baig S, Bhoyar JJ

Cureus 2025; (17(11)):e96825 doi:10.7759/cureus.96825.

Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum.

Vallabhaneni P, Dawman L, Bhatia A, et al.

CEN case reports 2026; (15(5)).