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Kidney disorder

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
Synonyms: Kidney disease; Kidney Diseases; Nephropathy
SNOMED CT: Disorder of kidney (90708001); Kidney disease (90708001); Renal disorder (90708001); Nephropathy (90708001); Renal disease (90708001); Disease of kidney (90708001)
 
HPO: HP:0000112
Monarch Initiative: MONDO:0005240

Definition

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKidney disorder

Conditions with this feature

Balkan nephropathy
MedGen UID:
495
Concept ID:
C0004698
Disease or Syndrome
A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.
Wiskott-Aldrich syndrome
MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
11p partial monosomy syndrome
MedGen UID:
64512
Concept ID:
C0206115
Disease or Syndrome
PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.
Dysmorphic sialidosis with renal involvement
MedGen UID:
82778
Concept ID:
C0268232
Congenital Abnormality
Familial visceral amyloidosis, Ostertag type
MedGen UID:
82799
Concept ID:
C0268389
Disease or Syndrome
A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.
Glomerulopathy with fibronectin deposits 1
MedGen UID:
98017
Concept ID:
C0403557
Disease or Syndrome
Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; 135600) (Castelletti et al., 2008). Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits The GFND1 locus maps to chromosome 1q32. See also GFND2 (601894), which is caused by mutation in the FN1 gene (135600) on chromosome 2q35.
Action myoclonus-renal failure syndrome
MedGen UID:
155629
Concept ID:
C0751779
Disease or Syndrome
The action myoclonus-renal failure syndrome, also known as progressive myclonic epilepsy-4 with or without renal failure (EPM4), is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Drash syndrome
MedGen UID:
181980
Concept ID:
C0950121
Disease or Syndrome
WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.
X-linked diffuse leiomyomatosis-Alport syndrome
MedGen UID:
333429
Concept ID:
C1839884
Disease or Syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Cobalamin C disease
MedGen UID:
341256
Concept ID:
C1848561
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Oculorenocerebellar syndrome
MedGen UID:
340516
Concept ID:
C1850331
Disease or Syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported.
Dahlberg-Borer-Newcomer syndrome
MedGen UID:
383693
Concept ID:
C1855477
Disease or Syndrome
A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
MedGen UID:
340966
Concept ID:
C1855787
Disease or Syndrome
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
MedGen UID:
349198
Concept ID:
C1859596
Disease or Syndrome
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
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.
Nephropathy, progressive tubulointerstitial, with cholestatic liver disease
MedGen UID:
355562
Concept ID:
C1865831
Disease or Syndrome
Spastic paraplegia-nephritis-deafness syndrome
MedGen UID:
355816
Concept ID:
C1866853
Disease or Syndrome
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.
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).
Hyperuricemic nephropathy, familial juvenile type 4
MedGen UID:
934708
Concept ID:
C4310741
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by Bolar et al., 2016). For a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 (162000).
Familial juvenile hyperuricemic nephropathy type 1
MedGen UID:
1645893
Concept ID:
C4551496
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the third and seventh decades. Hyperuricemia is often present from an early age, and gout (resulting from reduced kidney excretion of uric acid) occurs in the teenage years in about 8% of affected individuals and develops in 55% of affected individuals over time.
Joubert syndrome 1
MedGen UID:
1644883
Concept ID:
C4551568
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Professional guidelines

PubMed

Anand A, Aoyagi H
Medicina (Kaunas) 2023 May 16;59(5) doi: 10.3390/medicina59050959. PMID: 37241191Free PMC Article
Ackley W, Dahl NK, Park M
Adv Kidney Dis Health 2023 May;30(3):228-235. doi: 10.1053/j.akdh.2023.02.002. PMID: 37088525
Mahendran R, Lim SK, Ong KC, Chua KH, Chai HC
Clin Exp Nephrol 2021 Nov;25(11):1163-1172. Epub 2021 Jul 12 doi: 10.1007/s10157-021-02111-x. PMID: 34254206

Recent clinical studies

Etiology

Claudio P, Gabriella M
J Nephrol 2023 Nov;36(8):2179-2190. Epub 2023 Jul 19 doi: 10.1007/s40620-023-01697-7. PMID: 37466816
Ackley W, Dahl NK, Park M
Adv Kidney Dis Health 2023 May;30(3):228-235. doi: 10.1053/j.akdh.2023.02.002. PMID: 37088525
Furuichi K, Shimizu M, Okada H, Narita I, Wada T
Clin Exp Nephrol 2018 Oct;22(5):1046-1051. Epub 2018 Mar 21 doi: 10.1007/s10157-018-1556-4. PMID: 29564666Free PMC Article
Mao Z, Xie G, Ong AC
Nephrol Dial Transplant 2015 Feb;30(2):197-203. Epub 2014 Mar 2 doi: 10.1093/ndt/gfu044. PMID: 24589722
Jalanko H
Pediatr Nephrol 2009 Nov;24(11):2121-8. Epub 2007 Oct 30 doi: 10.1007/s00467-007-0633-9. PMID: 17968594Free PMC Article

Diagnosis

Shipman KE, Weisz OA
Function (Oxf) 2020;1(2):zqaa017. Epub 2020 Sep 11 doi: 10.1093/function/zqaa017. PMID: 33015630Free PMC Article
Furuichi K, Shimizu M, Okada H, Narita I, Wada T
Clin Exp Nephrol 2018 Oct;22(5):1046-1051. Epub 2018 Mar 21 doi: 10.1007/s10157-018-1556-4. PMID: 29564666Free PMC Article
Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C
Hum Mutat 2012 Aug;33(8):1239-50. Epub 2012 May 24 doi: 10.1002/humu.22103. PMID: 22508176
Alchi B, Jayne D
Pediatr Nephrol 2010 Aug;25(8):1409-18. Epub 2009 Nov 12 doi: 10.1007/s00467-009-1322-7. PMID: 19908070Free PMC Article
Simms RJ, Eley L, Sayer JA
Eur J Hum Genet 2009 Apr;17(4):406-16. Epub 2008 Dec 10 doi: 10.1038/ejhg.2008.238. PMID: 19066617Free PMC Article

Therapy

Ackley W, Dahl NK, Park M
Adv Kidney Dis Health 2023 May;30(3):228-235. doi: 10.1053/j.akdh.2023.02.002. PMID: 37088525
Casarella A, Nicotera R, Zicarelli MT, Urso A, Presta P, Deodato F, Bolignano D, De Sarro G, Andreucci M, Russo E, Coppolino G
Med Res Rev 2022 Jan;42(1):629-640. Epub 2021 Jul 30 doi: 10.1002/med.21850. PMID: 34328226
Aschenbrenner DS
Am J Nurs 2021 Feb 1;121(2):27. doi: 10.1097/01.NAJ.0000734120.60377.79. PMID: 33497125
Shah KS, Fang JC
Curr Hypertens Rep 2019 Oct 10;21(11):86. doi: 10.1007/s11906-019-0993-0. PMID: 31599363
Jalanko H
Pediatr Nephrol 2009 Nov;24(11):2121-8. Epub 2007 Oct 30 doi: 10.1007/s00467-007-0633-9. PMID: 17968594Free PMC Article

Prognosis

Shah H, Khan MSH, Dhurandhar NV, Hegde V
Acta Diabetol 2021 Jul;58(7):831-843. Epub 2021 Feb 15 doi: 10.1007/s00592-020-01636-z. PMID: 33587177Free PMC Article
Furuichi K, Shimizu M, Okada H, Narita I, Wada T
Clin Exp Nephrol 2018 Oct;22(5):1046-1051. Epub 2018 Mar 21 doi: 10.1007/s10157-018-1556-4. PMID: 29564666Free PMC Article
Steinman TI
Curr Opin Nephrol Hypertens 2012 Mar;21(2):189-94. doi: 10.1097/MNH.0b013e32835011a7. PMID: 22274800
Lindheimer MD, Katz AI
Baillieres Clin Obstet Gynaecol 1994 Jun;8(2):387-404. doi: 10.1016/s0950-3552(05)80327-x. PMID: 7924014
Lindheimer MD, Katz AI
Baillieres Clin Obstet Gynaecol 1987 Dec;1(4):921-37. doi: 10.1016/s0950-3552(87)80042-1. PMID: 3330493

Clinical prediction guides

Michels MAHM, Wijnsma KL, Kurvers RAJ, Westra D, Schreuder MF, van Wijk JAE, Bouts AHM, Gracchi V, Engels FAPT, Keijzer-Veen MG, Dorresteijn EM, Volokhina EB, van den Heuvel LPWJ, van de Kar NCAJ
Pediatr Nephrol 2022 Mar;37(3):601-612. Epub 2021 Sep 2 doi: 10.1007/s00467-021-05221-6. PMID: 34476601Free PMC Article
Phakdeekitcharoen B, Treesinchai W, Wibulpolprasert P, Boongird S, Klytrayong P
BMC Nephrol 2021 May 15;22(1):178. doi: 10.1186/s12882-021-02392-0. PMID: 33992075Free PMC Article
Grubb A
Clin Biochem 2020 Sep;83:12-20. Epub 2020 Jun 13 doi: 10.1016/j.clinbiochem.2020.06.002. PMID: 32544475
Steinman TI
Curr Opin Nephrol Hypertens 2012 Mar;21(2):189-94. doi: 10.1097/MNH.0b013e32835011a7. PMID: 22274800
Warner NS, Cuthbert JA, Bhore R, Rockey DC
J Investig Med 2011 Dec;59(8):1244-51. doi: 10.2130/JIM.0b013e3182321471. PMID: 21941210

Recent systematic reviews

Basist P, Parveen B, Zahiruddin S, Gautam G, Parveen R, Khan MA, Krishnan A, Shahid M, Ahmad S
J Ethnopharmacol 2022 Jan 30;283:114743. Epub 2021 Oct 14 doi: 10.1016/j.jep.2021.114743. PMID: 34655670
Sabiu S, O'Neill FH, Ashafa AOT
Afr J Tradit Complement Altern Med 2016;13(5):38-47. Epub 2016 Aug 12 doi: 10.21010/ajtcam.v13i5.6. PMID: 28487892Free PMC Article

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