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Renal tubular acidosis 3

MedGen UID:
336601
Concept ID:
C1849435
Disease or Syndrome
Synonyms: RENAL TUBULAR ACIDOSIS III; Renal tubular acidosis, distal, type 3; RTA, bicarbonate-wasting type; RTA, dislocation type
 
Monarch Initiative: MONDO:0009967
OMIM®: 267200

Clinical features

From HPO
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Periodic paralysis
MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
Episodes of muscle weakness.
Osteomalacia
MedGen UID:
14533
Concept ID:
C0029442
Disease or Syndrome
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Rickets
MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Bicarbonate-wasting renal tubular acidosis
MedGen UID:
347681
Concept ID:
C1858626
Disease or Syndrome

Professional guidelines

PubMed

Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Palmer BF, Kelepouris E, Clegg DJ
Adv Ther 2021 Feb;38(2):949-968. Epub 2020 Dec 26 doi: 10.1007/s12325-020-01587-5. PMID: 33367987Free PMC Article
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Recent clinical studies

Etiology

Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Fuster DG, Moe OW
Adv Chronic Kidney Dis 2018 Jul;25(4):366-374. doi: 10.1053/j.ackd.2018.05.007. PMID: 30139463Free PMC Article
Kurtz I
Adv Chronic Kidney Dis 2018 Jul;25(4):334-350. doi: 10.1053/j.ackd.2018.05.005. PMID: 30139460Free PMC Article
Lim S
Acta Med Indones 2007 Jul-Sep;39(3):145-50. PMID: 17936961
Rothstein M, Obialo C, Hruska KA
Endocrinol Metab Clin North Am 1990 Dec;19(4):869-87. PMID: 2081516

Diagnosis

Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Palmer BF, Kelepouris E, Clegg DJ
Adv Ther 2021 Feb;38(2):949-968. Epub 2020 Dec 26 doi: 10.1007/s12325-020-01587-5. PMID: 33367987Free PMC Article
Fuster DG, Moe OW
Adv Chronic Kidney Dis 2018 Jul;25(4):366-374. doi: 10.1053/j.ackd.2018.05.007. PMID: 30139463Free PMC Article
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223
Lim S
Acta Med Indones 2007 Jul-Sep;39(3):145-50. PMID: 17936961

Therapy

Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, Castaño L, Madariaga L
Nefrologia (Engl Ed) 2021 Jul-Aug;41(4):383-390. Epub 2021 Oct 7 doi: 10.1016/j.nefroe.2021.09.004. PMID: 36165107
Fuster DG, Moe OW
Adv Chronic Kidney Dis 2018 Jul;25(4):366-374. doi: 10.1053/j.ackd.2018.05.007. PMID: 30139463Free PMC Article
Golembiewska E, Ciechanowski K
Acta Biochim Pol 2012;59(2):213-7. Epub 2012 Jun 11 PMID: 22693689
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223
Lim S
Acta Med Indones 2007 Jul-Sep;39(3):145-50. PMID: 17936961

Prognosis

Akaishi T, Tarasawa K, Matsumoto Y, Sandhya P, Misu T, Fushimi K, Takahashi T, Fujimori J, Ishii T, Fujimori K, Yaegashi N, Nakashima I, Fujihara K, Aoki M
J Neurol Sci 2023 Sep 15;452:120742. Epub 2023 Jul 24 doi: 10.1016/j.jns.2023.120742. PMID: 37515845
Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, García-Pérez N, García-Ledesma P, Martín-Penagos L, Dall'Anese C, Ariceta G, Castaño L, Madariaga L
Pediatr Nephrol 2021 Oct;36(10):3133-3142. Epub 2021 Apr 21 doi: 10.1007/s00467-021-05066-z. PMID: 33881640
Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D
Pediatr Nephrol 2017 Jun;32(6):987-996. Epub 2017 Feb 10 doi: 10.1007/s00467-016-3573-4. PMID: 28188436
Chan JC
J Pediatr 1983 Mar;102(3):327-40. doi: 10.1016/s0022-3476(83)80644-1. PMID: 6402574
Mahoney MJ
Clin Perinatol 1976 Mar;3(1):61-78. PMID: 8230

Clinical prediction guides

Adachi M, Motegi S, Nagahara K, Ochi A, Toyoda J, Mizuno K
Endocr J 2023 Jul 28;70(7):723-729. Epub 2023 May 19 doi: 10.1507/endocrj.EJ22-0607. PMID: 37081692
Zhang Y, Qiao L, Zhang L, Li Q, Yang P, Kong X, Duan X, Zhang M, Li X, Wang Y, Xu J, Wang Y, Hsieh E, Zhao J, Xu D, Li M, Zhao Y, Zeng X
Clin Rheumatol 2023 Feb;42(2):431-441. Epub 2022 Nov 16 doi: 10.1007/s10067-022-06426-2. PMID: 36383239
Palmer BF, Kelepouris E, Clegg DJ
Adv Ther 2021 Feb;38(2):949-968. Epub 2020 Dec 26 doi: 10.1007/s12325-020-01587-5. PMID: 33367987Free PMC Article
Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D
Pediatr Nephrol 2017 Jun;32(6):987-996. Epub 2017 Feb 10 doi: 10.1007/s00467-016-3573-4. PMID: 28188436
Reddy P
Int J Clin Pract 2011 Mar;65(3):350-60. doi: 10.1111/j.1742-1241.2009.02311.x. PMID: 21314872

Recent systematic reviews

Clericetti CM, Milani GP, Lava SAG, Bianchetti MG, Simonetti GD, Giannini O
Pediatr Nephrol 2018 Mar;33(3):485-491. Epub 2017 Nov 13 doi: 10.1007/s00467-017-3829-7. PMID: 29134448
Scherdel P, Dunkel L, van Dommelen P, Goulet O, Salaün JF, Brauner R, Heude B, Chalumeau M
Lancet Diabetes Endocrinol 2016 May;4(5):447-56. Epub 2016 Jan 15 doi: 10.1016/S2213-8587(15)00392-7. PMID: 26777129

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