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Renal tubular acidosis

MedGen UID:
90
Concept ID:
C0001126
Disease or Syndrome
Synonyms: Acidosis, Renal Tubular; Renal Tubular Acidosis
SNOMED CT: RTA - Renal tubular acidosis (1776003); Renal tubular acidosis (1776003)
 
HPO: HP:0001947
Monarch Initiative: MONDO:0001909

Definition

Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. [from HPO]

Conditions with this feature

Kearns-Sayre syndrome
MedGen UID:
9618
Concept ID:
C0022541
Disease or Syndrome
Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome.
Proximal renal tubular acidosis
MedGen UID:
82804
Concept ID:
C0268435
Disease or Syndrome
A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
Renal tubular acidosis with progressive nerve deafness
MedGen UID:
98336
Concept ID:
C0403554
Disease or Syndrome
Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).
Carnitine palmitoyl transferase 1A deficiency
MedGen UID:
316820
Concept ID:
C1829703
Disease or Syndrome
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual with a concurrent febrile or gastrointestinal illness when energy demands are increased; onset of symptoms is usually rapid. The recognized phenotypes are: acute fatty liver of pregnancy, in which the fetus has biallelic pathogenic variants in CPT1A that causes CPT1A deficiency; and hepatic encephalopathy, in which individuals (typically children) present with hypoketotic hypoglycemia and sudden onset of liver failure. Individuals with hepatic encephalopathy typically present with hypoglycemia, absent or low levels of ketones, and elevated serum concentrations of liver transaminases, ammonia, and total carnitine. Between episodes of hepatic encephalopathy, individuals appear developmentally and cognitively normal unless previous metabolic decompensation has resulted in neurologic damage.
Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
MedGen UID:
344611
Concept ID:
C1855924
Disease or Syndrome
Alagille syndrome due to a NOTCH2 point mutation
MedGen UID:
341844
Concept ID:
C1857761
Disease or Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.
Arthrogryposis, renal dysfunction, and cholestasis 1
MedGen UID:
347219
Concept ID:
C1859722
Disease or Syndrome
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
Alagille syndrome due to a JAG1 point mutation
MedGen UID:
365434
Concept ID:
C1956125
Disease or Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.
Arthrogryposis, renal dysfunction, and cholestasis 2
MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).
Mitochondrial DNA depletion syndrome 13
MedGen UID:
815922
Concept ID:
C3809592
Disease or Syndrome
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days – 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.
Developmental and epileptic encephalopathy, 50
MedGen UID:
904125
Concept ID:
C4225320
Disease or Syndrome
Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350.
Combined oxidative phosphorylation defect type 11
MedGen UID:
1682397
Concept ID:
C5190991
Disease or Syndrome
COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
MedGen UID:
1794214
Concept ID:
C5562004
Disease or Syndrome
Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).

Recent clinical studies

Etiology

Guo W, Song Q, Zhang R, Xin Q, Liu Z, Lang Y, Zhao X, Shao L
Clin Genet 2021 Oct;100(4):440-446. Epub 2021 Jun 28 doi: 10.1111/cge.14011. PMID: 34159584
Trepiccione F, Walsh SB, Ariceta G, Boyer O, Emma F, Camilla R, Ferraro PM, Haffner D, Konrad M, Levtchenko E, Lopez-Garcia SC, Santos F, Stabouli S, Szczepanska M, Tasic V, Topaloglu R, Vargas-Poussou R, Wlodkowski T, Bockenhauer D
Nephrol Dial Transplant 2021 Aug 27;36(9):1585-1596. doi: 10.1093/ndt/gfab171. PMID: 33914889
Alonso-Varela M, Gil-Peña H, Santos F
Acta Paediatr 2020 Nov;109(11):2243-2250. Epub 2020 Apr 14 doi: 10.1111/apa.15269. PMID: 32212394
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739
Dhayat NA, Gradwell MW, Pathare G, Anderegg M, Schneider L, Luethi D, Mattmann C, Moe OW, Vogt B, Fuster DG
Clin J Am Soc Nephrol 2017 Sep 7;12(9):1507-1517. Epub 2017 Aug 3 doi: 10.2215/CJN.01320217. PMID: 28775126Free PMC Article

Diagnosis

Santos F, Gil-Peña H
Pediatr Nephrol 2023 Mar;38(3):635-642. Epub 2022 May 11 doi: 10.1007/s00467-022-05546-w. PMID: 35543873
Kumagai N, Kondoh T, Matsumoto Y, Ikezumi Y
Tohoku J Exp Med 2022 May 28;257(1):73-76. Epub 2022 Mar 31 doi: 10.1620/tjem.2022.J015. PMID: 35354692
Sromicki J, Kacl G, Föhl M, Hess B
J Nephrol 2022 Jul;35(6):1619-1626. Epub 2022 Jan 1 doi: 10.1007/s40620-021-01207-7. PMID: 34973150Free 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
Jobst-Schwan T, Klämbt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, Ottlewski I, Shmukler BE, Topaloglu R, Hashmi S, Hafeez F, Emma F, Greco M, Laube GF, Fathy HM, Pohl M, Gellermann J, Milosevic D, Baum MA, Mane S, Lifton RP, Kane PM, Alper SL, Hildebrandt F
Kidney Int 2020 Mar;97(3):567-579. Epub 2019 Oct 22 doi: 10.1016/j.kint.2019.09.026. PMID: 31959358Free PMC Article

Therapy

Dave M, Sareen M, Goyal A, Gonchikar NT, Shah Y
J R Coll Physicians Edinb 2022 Jun;52(2):117-119. Epub 2022 Jun 17 doi: 10.1177/14782715221103643. PMID: 36146985
Kyono Y, Nozu K, Nakagawa T, Takami Y, Fujita H, Ioroi T, Kugo M, Iijima K, Kamiyoshi N
CEN Case Rep 2020 Feb;9(1):81-86. Epub 2019 Nov 8 doi: 10.1007/s13730-019-00432-1. PMID: 31705302Free PMC Article
Vasquez-Rios G, Westrich DJ Jr, Philip I, Edwards JC, Shieh S
J Med Case Rep 2019 Apr 26;13(1):103. doi: 10.1186/s13256-019-2056-1. PMID: 31023369Free PMC Article
Uduman J, Yee J
Adv Chronic Kidney Dis 2018 Jul;25(4):358-365. doi: 10.1053/j.ackd.2018.05.001. PMID: 30139462
Dhayat NA, Gradwell MW, Pathare G, Anderegg M, Schneider L, Luethi D, Mattmann C, Moe OW, Vogt B, Fuster DG
Clin J Am Soc Nephrol 2017 Sep 7;12(9):1507-1517. Epub 2017 Aug 3 doi: 10.2215/CJN.01320217. PMID: 28775126Free PMC Article

Prognosis

Sromicki J, Kacl G, Föhl M, Hess B
J Nephrol 2022 Jul;35(6):1619-1626. Epub 2022 Jan 1 doi: 10.1007/s40620-021-01207-7. PMID: 34973150Free PMC Article
Sakuraya K, Nozu K, Oka I, Fujinaga S, Nagano C, Ohtomo Y, Iijima K
CEN Case Rep 2020 Nov;9(4):442-445. Epub 2020 Jul 6 doi: 10.1007/s13730-020-00500-x. PMID: 32632909Free PMC Article
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739
Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F; RenalTube Group.
Pediatr Nephrol 2018 Sep;33(9):1523-1529. Epub 2018 May 3 doi: 10.1007/s00467-018-3965-8. PMID: 29725771
Dhayat NA, Gradwell MW, Pathare G, Anderegg M, Schneider L, Luethi D, Mattmann C, Moe OW, Vogt B, Fuster DG
Clin J Am Soc Nephrol 2017 Sep 7;12(9):1507-1517. Epub 2017 Aug 3 doi: 10.2215/CJN.01320217. PMID: 28775126Free PMC Article

Clinical prediction guides

Sharda K, Sharda K, Saxena P, Sharma A, Swami V
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443430
Kumagai N, Kondoh T, Matsumoto Y, Ikezumi Y
Tohoku J Exp Med 2022 May 28;257(1):73-76. Epub 2022 Mar 31 doi: 10.1620/tjem.2022.J015. PMID: 35354692
Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Noppakun K
J Am Dent Assoc 2022 Jul;153(7):668-676. Epub 2022 Mar 5 doi: 10.1016/j.adaj.2021.12.009. PMID: 35260236
Sromicki J, Kacl G, Föhl M, Hess B
J Nephrol 2022 Jul;35(6):1619-1626. Epub 2022 Jan 1 doi: 10.1007/s40620-021-01207-7. PMID: 34973150Free 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

Recent systematic reviews

Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Ignacio KHD, Bagnas MAC, Espiritu AI, Reyes JPBT
J Clin Neurosci 2019 Dec;70:254-257. Epub 2019 Aug 19 doi: 10.1016/j.jocn.2019.08.063. PMID: 31439490
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
Gambaro G, Croppi E, Coe F, Lingeman J, Moe O, Worcester E, Buchholz N, Bushinsky D, Curhan GC, Ferraro PM, Fuster D, Goldfarb DS, Heilberg IP, Hess B, Lieske J, Marangella M, Milliner D, Preminger GM, Reis Santos JM, Sakhaee K, Sarica K, Siener R, Strazzullo P, Williams JC; Consensus Conference Group.
J Nephrol 2016 Dec;29(6):715-734. Epub 2016 Jul 25 doi: 10.1007/s40620-016-0329-y. PMID: 27456839Free PMC Article
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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