U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Distal renal tubular acidosis(DRTA1)

MedGen UID:
853429
Concept ID:
C1704380
Disease or Syndrome
Synonyms: Acidosis, Renal Tubular, Type I; Autosomal Dominant Distal Renal Tubular Acidosis; Classic Distal Renal Tubular Acidosis; Classic Type RTA; Classic Type RTAs; Distal Renal Tubular Acidosis; Gradient Type RTA; Gradient Type RTAs; Renal Tubular Acidosis 1; Renal Tubular Acidosis I; Renal Tubular Acidosis, Distal, Autosomal Dominant; Renal Tubular Acidosis, Type I; RTA, Classic Type; RTA, Distal Type, Autosomal Dominant; RTA, Gradient Type; RTAs, Classic Type; RTAs, Gradient Type; Type I Renal Tubular Acidosis
SNOMED CT: Albright's renal tubular acidosis (236461000); Classic distal renal tubular acidosis (236461000); Type I renal tubular acidosis (236461000); Distal renal tubular acidosis (236461000); RTA (renal tubular acidosis) type I (236461000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0008341
Monarch Initiative: MONDO:0015827
OMIM®: 109270; 179800
OMIM® Phenotypic series: PS179800
Orphanet: ORPHA18

Definition

A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. [from HPO]

Conditions with this feature

Primary hypomagnesemia
MedGen UID:
120640
Concept ID:
C0268448
Disease or Syndrome
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).
Osteopetrosis with renal tubular acidosis
MedGen UID:
91042
Concept ID:
C0345407
Disease or Syndrome
Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.
Hypoparathyroidism, deafness, renal disease syndrome
MedGen UID:
374443
Concept ID:
C1840333
Disease or Syndrome
HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018).
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
MedGen UID:
1732975
Concept ID:
C5399980
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).
Renal tubular acidosis, distal, 4, with hemolytic anemia
MedGen UID:
1771439
Concept ID:
C5436235
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).
Autosomal dominant distal renal tubular acidosis
MedGen UID:
963849
Concept ID:
CN280572
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).

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

Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S
Nat Rev Nephrol 2023 Jun;19(6):384-400. Epub 2023 Apr 4 doi: 10.1038/s41581-023-00699-9. PMID: 37016093
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
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739
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
Santos F, Gil-Peña H, Alvarez-Alvarez S
Curr Opin Pediatr 2017 Apr;29(2):206-210. doi: 10.1097/MOP.0000000000000460. PMID: 28092281

Diagnosis

Uppal NN, Workeneh BT, Rondon-Berrios H, Jhaveri KD
Clin J Am Soc Nephrol 2022 Jun;17(6):922-933. Epub 2022 Jan 21 doi: 10.2215/CJN.14671121. PMID: 35063968Free PMC Article
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
Palmer BF, Clegg DJ
Minerva Endocrinol 2019 Dec;44(4):363-377. Epub 2019 Jul 24 doi: 10.23736/S0391-1977.19.03059-1. PMID: 31347344
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739

Therapy

Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S
Nat Rev Nephrol 2023 Jun;19(6):384-400. Epub 2023 Apr 4 doi: 10.1038/s41581-023-00699-9. PMID: 37016093
Uppal NN, Workeneh BT, Rondon-Berrios H, Jhaveri KD
Clin J Am Soc Nephrol 2022 Jun;17(6):922-933. Epub 2022 Jan 21 doi: 10.2215/CJN.14671121. PMID: 35063968Free PMC Article
Palmer BF, Clegg DJ
Minerva Endocrinol 2019 Dec;44(4):363-377. Epub 2019 Jul 24 doi: 10.23736/S0391-1977.19.03059-1. PMID: 31347344
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

Prognosis

Shahab-Movahed Z, Majd A, Siasi Torbati E, Zeinali S
Iran Biomed J 2021 Sep 1;25(5):359-67. doi: 10.52547/ibj.25.5.359. [Epub ahead of print] PMID: 34481427Free PMC Article
Iacobelli S, Guignard JP
Pediatr Nephrol 2020 Feb;35(2):221-228. Epub 2018 Nov 19 doi: 10.1007/s00467-018-4142-9. PMID: 30456666
Capolongo G, Zacchia M, Perna A, Viggiano D, Capasso G
Urolithiasis 2019 Feb;47(1):91-98. Epub 2018 Dec 18 doi: 10.1007/s00240-018-01104-y. PMID: 30564846
Alexander RT, Bitzan M
Pediatr Clin North Am 2019 Feb;66(1):135-157. doi: 10.1016/j.pcl.2018.08.011. PMID: 30454739
Santos F, Gil-Peña H, Alvarez-Alvarez S
Curr Opin Pediatr 2017 Apr;29(2):206-210. doi: 10.1097/MOP.0000000000000460. PMID: 28092281

Clinical prediction guides

Ring T, Frische S, Rees SE, Nybo J, Kristensen SR
Scand J Clin Lab Invest 2023 May;83(3):166-172. Epub 2023 Mar 29 doi: 10.1080/00365513.2023.2188607. PMID: 36988149
Uppal NN, Workeneh BT, Rondon-Berrios H, Jhaveri KD
Clin J Am Soc Nephrol 2022 Jun;17(6):922-933. Epub 2022 Jan 21 doi: 10.2215/CJN.14671121. PMID: 35063968Free PMC Article
Shahab-Movahed Z, Majd A, Siasi Torbati E, Zeinali S
Iran Biomed J 2021 Sep 1;25(5):359-67. doi: 10.52547/ibj.25.5.359. [Epub ahead of print] PMID: 34481427Free 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
Capolongo G, Zacchia M, Perna A, Viggiano D, Capasso G
Urolithiasis 2019 Feb;47(1):91-98. Epub 2018 Dec 18 doi: 10.1007/s00240-018-01104-y. PMID: 30564846

Recent systematic reviews

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
von Vigier RO, Ortisi MT, La Manna A, Bianchetti MG, Bettinelli A
Pediatr Nephrol 2010 May;25(5):861-6. Epub 2009 Dec 22 doi: 10.1007/s00467-009-1388-2. PMID: 20033223

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...