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Impaired urinary acidification

MedGen UID:
1378965
Concept ID:
C4476921
Finding
Synonym: Renal acidification defect
 
HPO: HP:0031033

Definition

The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired urinary acidification

Conditions with this feature

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

Soares SBM, de Menezes Silva LAW, de Carvalho Mrad FC, Simões E Silva AC
World J Pediatr 2019 Oct;15(5):422-431. Epub 2019 May 11 doi: 10.1007/s12519-019-00260-4. PMID: 31079338

Recent clinical studies

Therapy

Gosavi V, Lila A, Memon SS, Sarathi V, Goroshi M, Jamale T, Thakare S, Phadte A, Patil V, Bandgar T
Ann Endocrinol (Paris) 2023 Feb;84(1):14-20. Epub 2022 Dec 20 doi: 10.1016/j.ando.2022.10.015. PMID: 36563936
Khan N, Akhtar N, Khan FF, Hussain S, Naeem M
Genet Test Mol Biomarkers 2020 Feb;24(2):85-91. doi: 10.1089/gtmb.2019.0195. PMID: 31999492
Cazenave M, Audard V, Bertocchio JP, Habibi A, Baron S, Prot-Bertoye C, Berkenou J, Maruani G, Stehlé T, Cornière N, Ayari H, Friedlander G, Galacteros F, Houillier P, Bartolucci P, Courbebaisse M
Clin J Am Soc Nephrol 2020 Jan 7;15(1):16-24. Epub 2019 Dec 10 doi: 10.2215/CJN.07830719. PMID: 31822527Free PMC Article
Dhayat NA, Schaller A, Albano G, Poindexter J, Griffith C, Pasch A, Gallati S, Vogt B, Moe OW, Fuster DG
J Am Soc Nephrol 2016 May;27(5):1544-54. Epub 2015 Oct 9 doi: 10.1681/ASN.2015040367. PMID: 26453614Free PMC Article
Izraeli S, Rachmel A, Frishberg Y, Erman A, Flasterstein B, Nitzan M, Boner G
J Pediatr 1990 Nov;117(5):711-6. doi: 10.1016/s0022-3476(05)83326-8. PMID: 2231202

Prognosis

Khan N, Akhtar N, Khan FF, Hussain S, Naeem M
Genet Test Mol Biomarkers 2020 Feb;24(2):85-91. doi: 10.1089/gtmb.2019.0195. PMID: 31999492
Izraeli S, Rachmel A, Frishberg Y, Erman A, Flasterstein B, Nitzan M, Boner G
J Pediatr 1990 Nov;117(5):711-6. doi: 10.1016/s0022-3476(05)83326-8. PMID: 2231202

Clinical prediction guides

Kumagai N, Matsuki T, Nakayama M
Tohoku J Exp Med 2023 Nov 11;261(3):195-198. Epub 2023 Aug 25 doi: 10.1620/tjem.2023.J070. PMID: 37635062
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
Khan N, Akhtar N, Khan FF, Hussain S, Naeem M
Genet Test Mol Biomarkers 2020 Feb;24(2):85-91. doi: 10.1089/gtmb.2019.0195. PMID: 31999492
Izraeli S, Rachmel A, Frishberg Y, Erman A, Flasterstein B, Nitzan M, Boner G
J Pediatr 1990 Nov;117(5):711-6. doi: 10.1016/s0022-3476(05)83326-8. PMID: 2231202

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