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Albuminuria

MedGen UID:
1394
Concept ID:
C0001925
Finding
Synonym: Albuminurias
SNOMED CT: Albuminuria (274769005)
 
HPO: HP:0012592

Definition

Increased concentration of albumin in the urine. [from HPO]

Conditions with this feature

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
MedGen UID:
82777
Concept ID:
C0268151
Disease or Syndrome
The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI.
Peroxisome biogenesis disorder 1A (Zellweger)
MedGen UID:
1648474
Concept ID:
C4721541
Disease or Syndrome
Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.
Proteinuria, chronic benign
MedGen UID:
1714078
Concept ID:
C5394384
Finding
Chronic benign proteinuria (PROCHOB) is an autosomal recessive condition characterized by onset of isolated proteinuria in the first decade of life. The proteinuria is nonprogressive; affected individuals do not develop renal disease or impaired kidney function, and they do not have additional associated abnormalities, such as hypertension. The correct diagnosis is important to avoid inefficient or invasive intervention, such as medication or renal biopsy (summary by Bedin et al., 2020).

Professional guidelines

PubMed

Samsu N
Biomed Res Int 2021;2021:1497449. Epub 2021 Jul 8 doi: 10.1155/2021/1497449. PMID: 34307650Free PMC Article
Chen TK, Knicely DH, Grams ME
JAMA 2019 Oct 1;322(13):1294-1304. doi: 10.1001/jama.2019.14745. PMID: 31573641Free PMC Article
Drew DA, Weiner DE, Sarnak MJ
Am J Kidney Dis 2019 Dec;74(6):782-790. Epub 2019 Aug 1 doi: 10.1053/j.ajkd.2019.05.017. PMID: 31378643Free PMC Article

Recent clinical studies

Etiology

Georgianos PI, Dounousi E, Liakopoulos V
Curr Opin Cardiol 2023 Jul 1;38(4):331-336. Epub 2023 Mar 28 doi: 10.1097/HCO.0000000000001055. PMID: 37016948
Khan MS, Shahid I, Anker SD, Fonarow GC, Fudim M, Hall ME, Hernandez A, Morris AA, Shafi T, Weir MR, Zannad F, Bakris GL, Butler J
J Am Coll Cardiol 2023 Jan 24;81(3):270-282. doi: 10.1016/j.jacc.2022.10.028. PMID: 36653095
Tian Y, Sun J, Qiu M, Lu Y, Qian X, Sun W, Kong X
Clin Exp Hypertens 2023 Dec 31;45(1):2150204. doi: 10.1080/10641963.2022.2150204. PMID: 36540929
Boorsma EM, Ter Maaten JM, Damman K, van Essen BJ, Zannad F, van Veldhuisen DJ, Samani NJ, Dickstein K, Metra M, Filippatos G, Lang CC, Ng L, Anker SD, Cleland JG, Pellicori P, Gansevoort RT, Heerspink HJL, Voors AA, Emmens JE
Eur Heart J 2023 Feb 1;44(5):368-380. doi: 10.1093/eurheartj/ehac528. PMID: 36148485Free PMC Article
Murton M, Goff-Leggett D, Bobrowska A, Garcia Sanchez JJ, James G, Wittbrodt E, Nolan S, Sörstadius E, Pecoits-Filho R, Tuttle K
Adv Ther 2021 Jan;38(1):180-200. Epub 2020 Nov 24 doi: 10.1007/s12325-020-01568-8. PMID: 33231861Free PMC Article

Diagnosis

Li X, Wang L, Zhou H, Xu H
BMC Nephrol 2023 Sep 11;24(1):266. doi: 10.1186/s12882-023-03316-w. PMID: 37691097Free PMC Article
Chu CD, Xia F, Du Y, Singh R, Tuot DS, Lamprea-Montealegre JA, Gualtieri R, Liao N, Kong SX, Williamson T, Shlipak MG, Estrella MM
JAMA Netw Open 2023 Jul 3;6(7):e2326230. doi: 10.1001/jamanetworkopen.2023.26230. PMID: 37498594Free PMC Article
Ruilope LM, Ortiz A, Lucia A, Miranda B, Alvarez-Llamas G, Barderas MG, Volpe M, Ruiz-Hurtado G, Pitt B
Eur Heart J 2023 Apr 1;44(13):1112-1123. doi: 10.1093/eurheartj/ehac683. PMID: 36477861
Boorsma EM, Ter Maaten JM, Damman K, van Essen BJ, Zannad F, van Veldhuisen DJ, Samani NJ, Dickstein K, Metra M, Filippatos G, Lang CC, Ng L, Anker SD, Cleland JG, Pellicori P, Gansevoort RT, Heerspink HJL, Voors AA, Emmens JE
Eur Heart J 2023 Feb 1;44(5):368-380. doi: 10.1093/eurheartj/ehac528. PMID: 36148485Free PMC Article
Selby NM, Taal MW
Diabetes Obes Metab 2020 Apr;22 Suppl 1:3-15. doi: 10.1111/dom.14007. PMID: 32267079

Therapy

Provenzano M, Puchades MJ, Garofalo C, Jongs N, D'Marco L, Andreucci M, De Nicola L, Gorriz JL, Heerspink HJL; ROTATE-3 study group; ROTATE-3 study group members
J Am Soc Nephrol 2022 Aug;33(8):1569-1580. Epub 2022 Apr 19 doi: 10.1681/ASN.2022020207. PMID: 35440501Free PMC Article
Neuen BL, Young T, Heerspink HJL, Neal B, Perkovic V, Billot L, Mahaffey KW, Charytan DM, Wheeler DC, Arnott C, Bompoint S, Levin A, Jardine MJ
Lancet Diabetes Endocrinol 2019 Nov;7(11):845-854. Epub 2019 Sep 5 doi: 10.1016/S2213-8587(19)30256-6. PMID: 31495651
Kluger AY, Tecson KM, Lee AY, Lerma EV, Rangaswami J, Lepor NE, Cobble ME, McCullough PA
Cardiovasc Diabetol 2019 Aug 5;18(1):99. doi: 10.1186/s12933-019-0903-4. PMID: 31382965Free PMC Article
Wanner C, Inzucchi SE, Lachin JM, Fitchett D, von Eynatten M, Mattheus M, Johansen OE, Woerle HJ, Broedl UC, Zinman B; EMPA-REG OUTCOME Investigators
N Engl J Med 2016 Jul 28;375(4):323-34. Epub 2016 Jun 14 doi: 10.1056/NEJMoa1515920. PMID: 27299675
Ninomiya T, Perkovic V, de Galan BE, Zoungas S, Pillai A, Jardine M, Patel A, Cass A, Neal B, Poulter N, Mogensen CE, Cooper M, Marre M, Williams B, Hamet P, Mancia G, Woodward M, Macmahon S, Chalmers J; ADVANCE Collaborative Group
J Am Soc Nephrol 2009 Aug;20(8):1813-21. Epub 2009 May 14 doi: 10.1681/ASN.2008121270. PMID: 19443635Free PMC Article

Prognosis

Swartling O, Rydell H, Stendahl M, Segelmark M, Trolle Lagerros Y, Evans M
Am J Kidney Dis 2021 Aug;78(2):190-199.e1. Epub 2021 Jan 9 doi: 10.1053/j.ajkd.2020.11.026. PMID: 33434591
Kelly JT, Su G, Zhang L, Qin X, Marshall S, González-Ortiz A, Clase CM, Campbell KL, Xu H, Carrero JJ
J Am Soc Nephrol 2021 Jan;32(1):239-253. Epub 2020 Aug 31 doi: 10.1681/ASN.2020030384. PMID: 32868398Free PMC Article
Cherney DZI, Dekkers CCJ, Barbour SJ, Cattran D, Abdul Gafor AH, Greasley PJ, Laverman GD, Lim SK, Di Tanna GL, Reich HN, Vervloet MG, Wong MG, Gansevoort RT, Heerspink HJL; DIAMOND investigators
Lancet Diabetes Endocrinol 2020 Jul;8(7):582-593. doi: 10.1016/S2213-8587(20)30162-5. PMID: 32559474
Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and Complications (EDIC) Study Research Group
Diabetes Care 2016 May;39(5):686-93. Epub 2016 Feb 9 doi: 10.2337/dc15-1990. PMID: 26861924Free PMC Article
Chronic Kidney Disease Prognosis Consortium, Matsushita K, van der Velde M, Astor BC, Woodward M, Levey AS, de Jong PE, Coresh J, Gansevoort RT
Lancet 2010 Jun 12;375(9731):2073-81. Epub 2010 May 17 doi: 10.1016/S0140-6736(10)60674-5. PMID: 20483451Free PMC Article

Clinical prediction guides

Slieker RC, van der Heijden AAWA, Siddiqui MK, Langendoen-Gort M, Nijpels G, Herings R, Feenstra TL, Moons KGM, Bell S, Elders PJ, 't Hart LM, Beulens JWJ
BMJ 2021 Sep 28;374:n2134. doi: 10.1136/bmj.n2134. PMID: 34583929Free PMC Article
Souweine JS, Corbel A, Rigothier C, Roque CD, Hadjadj S, Cristol JP, Combe C, Bigot-Corbel E, Beauvieux MC; groupe de travail SFBC, SFNDT, SNP
Ann Biol Clin (Paris) 2019 Feb 1;77(1):26-35. doi: 10.1684/abc.2018.1402. PMID: 30799295
Ballew SH, Matsushita K
Semin Nephrol 2018 May;38(3):208-216. doi: 10.1016/j.semnephrol.2018.02.002. PMID: 29753398
Boddi M
Adv Exp Med Biol 2017;956:191-208. doi: 10.1007/5584_2016_170. PMID: 27966109
Komenda P, Rigatto C, Tangri N
Curr Opin Nephrol Hypertens 2014 May;23(3):251-7. doi: 10.1097/01.mnh.0000444910.55665.e8. PMID: 24675138

Recent systematic reviews

Murton M, Goff-Leggett D, Bobrowska A, Garcia Sanchez JJ, James G, Wittbrodt E, Nolan S, Sörstadius E, Pecoits-Filho R, Tuttle K
Adv Ther 2021 Jan;38(1):180-200. Epub 2020 Nov 24 doi: 10.1007/s12325-020-01568-8. PMID: 33231861Free PMC Article
Neuen BL, Young T, Heerspink HJL, Neal B, Perkovic V, Billot L, Mahaffey KW, Charytan DM, Wheeler DC, Arnott C, Bompoint S, Levin A, Jardine MJ
Lancet Diabetes Endocrinol 2019 Nov;7(11):845-854. Epub 2019 Sep 5 doi: 10.1016/S2213-8587(19)30256-6. PMID: 31495651
Toyama T, Neuen BL, Jun M, Ohkuma T, Neal B, Jardine MJ, Heerspink HL, Wong MG, Ninomiya T, Wada T, Perkovic V
Diabetes Obes Metab 2019 May;21(5):1237-1250. Epub 2019 Mar 4 doi: 10.1111/dom.13648. PMID: 30697905
Xie X, Atkins E, Lv J, Bennett A, Neal B, Ninomiya T, Woodward M, MacMahon S, Turnbull F, Hillis GS, Chalmers J, Mant J, Salam A, Rahimi K, Perkovic V, Rodgers A
Lancet 2016 Jan 30;387(10017):435-43. Epub 2015 Nov 7 doi: 10.1016/S0140-6736(15)00805-3. PMID: 26559744
Levey AS, Becker C, Inker LA
JAMA 2015 Feb 24;313(8):837-46. doi: 10.1001/jama.2015.0602. PMID: 25710660Free PMC Article

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