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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.
Familial partial lipodystrophy, Dunnigan type
MedGen UID:
354526
Concept ID:
C1720860
Disease or Syndrome
Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.
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).
Alport syndrome 3b, autosomal recessive
MedGen UID:
1848447
Concept ID:
C5882699
Disease or Syndrome
In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.

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

Barzilay JI, Farag YMK, Durthaler J
J Am Heart Assoc 2024 Jan 16;13(2):e030131. Epub 2024 Jan 12 doi: 10.1161/JAHA.123.030131. PMID: 38214258Free PMC Article
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
Bogojevic Z, Bakris GL
Heart Fail Clin 2006 Jan;2(1):53-9. doi: 10.1016/j.hfc.2005.11.004. PMID: 17386876
Khosla N, Sarafidis PA, Bakris GL
Clin Lab Med 2006 Sep;26(3):635-53, vi-vii. doi: 10.1016/j.cll.2006.06.005. PMID: 16938588
Marre M, Bouhanick B, Berrut G
Curr Opin Nephrol Hypertens 1994 Sep;3(5):558-63. doi: 10.1097/00041552-199409000-00015. PMID: 7804756

Diagnosis

Barzilay JI, Farag YMK, Durthaler J
J Am Heart Assoc 2024 Jan 16;13(2):e030131. Epub 2024 Jan 12 doi: 10.1161/JAHA.123.030131. PMID: 38214258Free 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
Selby NM, Taal MW
Diabetes Obes Metab 2020 Apr;22 Suppl 1:3-15. doi: 10.1111/dom.14007. PMID: 32267079
Wall BM
Am J Med Sci 2010 Jul;340(1):25-9. doi: 10.1097/MAJ.0b013e3181e59078. PMID: 20610968
Bogojevic Z, Bakris GL
Heart Fail Clin 2006 Jan;2(1):53-9. doi: 10.1016/j.hfc.2005.11.004. PMID: 17386876

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
Heerspink HJ, Perkins BA, Fitchett DH, Husain M, Cherney DZ
Circulation 2016 Sep 6;134(10):752-72. Epub 2016 Jul 28 doi: 10.1161/CIRCULATIONAHA.116.021887. PMID: 27470878
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

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
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
Bogojevic Z, Bakris GL
Heart Fail Clin 2006 Jan;2(1):53-9. doi: 10.1016/j.hfc.2005.11.004. PMID: 17386876

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
Seidu S, Barrat J, Khunti K
Prim Care Diabetes 2020 Aug;14(4):370-375. Epub 2020 Mar 2 doi: 10.1016/j.pcd.2020.02.006. PMID: 32139245
Soares AA, Eyff TF, Campani RB, Ritter L, Camargo JL, Silveiro SP
Clin Chem Lab Med 2009;47(9):1023-32. doi: 10.1515/CCLM.2009.263. PMID: 19728843
William J, Hogan D, Batlle D
Adv Chronic Kidney Dis 2005 Apr;12(2):202-11. doi: 10.1053/j.ackd.2005.02.001. PMID: 15822056
Cohn PF, Fox KM, Daly C
Circulation 2003 Sep 9;108(10):1263-77. doi: 10.1161/01.CIR.0000088001.59265.EE. PMID: 12963683

Recent systematic reviews

Lane MM, Gamage E, Du S, Ashtree DN, McGuinness AJ, Gauci S, Baker P, Lawrence M, Rebholz CM, Srour B, Touvier M, Jacka FN, O'Neil A, Segasby T, Marx W
BMJ 2024 Feb 28;384:e077310. doi: 10.1136/bmj-2023-077310. PMID: 38418082Free PMC Article
Büttner F, Barbosa CV, Lang H, Tian Z, Melk A, Schmidt BMW
PLoS One 2023;18(11):e0293183. Epub 2023 Nov 2 doi: 10.1371/journal.pone.0293183. PMID: 37917640Free PMC Article
Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Ghamdi AHA
Curr Diabetes Rev 2020;16(3):242-247. doi: 10.2174/1573399815666190215120435. PMID: 30767747
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

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