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Kidney disease

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
Synonyms: Kidney Diseases; Kidney disorder; 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 disease

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 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.
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction
MedGen UID:
315660
Concept ID:
C1809475
Disease or Syndrome
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.
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
MedGen UID:
382033
Concept ID:
C2673195
Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.
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.
Wiskott-Aldrich syndrome, autosomal dominant form
MedGen UID:
1783558
Concept ID:
C5542398
Disease or Syndrome

Recent clinical studies

Etiology

Tang R, Liu Y, Chen J, Deng J, Liu Y, Xu Q
Ren Fail 2023 Dec;45(1):2160347. doi: 10.1080/0886022X.2022.2160347. PMID: 36632822Free PMC Article
Varian FL, Parker WAE, Fotheringham J, Storey RF
Platelets 2023 Dec;34(1):2154330. doi: 10.1080/09537104.2022.2154330. PMID: 36524601
Borrelli S, Garofalo C, Gabbai FB, Chiodini P, Signoriello S, Paoletti E, Ravera M, Bussalino E, Bellizzi V, Liberti ME, De Nicola L, Minutolo R
Am J Kidney Dis 2023 Jan;81(1):15-24.e1. Epub 2022 Jun 13 doi: 10.1053/j.ajkd.2022.04.010. PMID: 35709922
Zhang L, Xu K, Ma L, Shao C, Gong C, Yu N
Abdom Radiol (NY) 2022 Dec;47(12):4186-4194. Epub 2022 Sep 19 doi: 10.1007/s00261-022-03664-5. PMID: 36121456
Shen Y, Wang J, Yuan J, Yang L, Yu F, Wang X, Zhao MH, Zhang L, Zha Y; Chinese Cohort Study of Chronic Kidney Disease (C-STRIDE).
BMC Nephrol 2021 Feb 22;22(1):64. doi: 10.1186/s12882-021-02247-8. PMID: 33618679Free PMC Article

Diagnosis

Tang R, Liu Y, Chen J, Deng J, Liu Y, Xu Q
Ren Fail 2023 Dec;45(1):2160347. doi: 10.1080/0886022X.2022.2160347. PMID: 36632822Free PMC Article
Sasaki T, Sakata S, Oishi E, Furuta Y, Honda T, Hata J, Tsuboi N, Kitazono T, Yokoo T, Ninomiya T
J Am Heart Assoc 2022 Oct 4;11(19):e027173. Epub 2022 Sep 29 doi: 10.1161/JAHA.122.027173. PMID: 36172942Free PMC Article
Zhang L, Xu K, Ma L, Shao C, Gong C, Yu N
Abdom Radiol (NY) 2022 Dec;47(12):4186-4194. Epub 2022 Sep 19 doi: 10.1007/s00261-022-03664-5. PMID: 36121456
Lei N, Zhang X, Wei M, Lao B, Xu X, Zhang M, Chen H, Xu Y, Xia B, Zhang D, Dong C, Fu L, Tang F, Wu Y
BMC Med Inform Decis Mak 2022 Aug 1;22(1):205. doi: 10.1186/s12911-022-01951-1. PMID: 35915457Free PMC Article
Kitchlu A, Reid J, Jeyakumar N, Dixon SN, Munoz AM, Silver SA, Booth CM, Chan CTM, Garg AX, Amir E, Kim SJ, Wald R
Am J Kidney Dis 2022 Oct;80(4):436-448.e1. Epub 2022 Apr 8 doi: 10.1053/j.ajkd.2022.02.020. PMID: 35405208

Therapy

Varian FL, Parker WAE, Fotheringham J, Storey RF
Platelets 2023 Dec;34(1):2154330. doi: 10.1080/09537104.2022.2154330. PMID: 36524601
Hammett C, Badve SV, Kerr PG, Tran HA, Dundon BK, Lo S, Wong A, Joseph JE, Deague J, Perkovic V
Heart Lung Circ 2022 Dec;31(12):1604-1611. Epub 2022 Nov 3 doi: 10.1016/j.hlc.2022.09.003. PMID: 36336614
Forst T, Mathieu C, Giorgino F, Wheeler DC, Papanas N, Schmieder RE, Halabi A, Schnell O, Streckbein M, Tuttle KR
BMC Med 2022 Oct 10;20(1):337. doi: 10.1186/s12916-022-02539-2. PMID: 36210442Free PMC Article
Lan J, Zhang H, Sheng R, He Y
Scott Med J 2022 Nov;67(4):144-156. Epub 2022 Jul 21 doi: 10.1177/00369330221112175. PMID: 35862029
Sise ME, McQuaid T, Martin P
Nephrol Dial Transplant 2022 Nov 23;37(12):2327-2334. doi: 10.1093/ndt/gfab072. PMID: 33848334

Prognosis

Borrelli S, Garofalo C, Gabbai FB, Chiodini P, Signoriello S, Paoletti E, Ravera M, Bussalino E, Bellizzi V, Liberti ME, De Nicola L, Minutolo R
Am J Kidney Dis 2023 Jan;81(1):15-24.e1. Epub 2022 Jun 13 doi: 10.1053/j.ajkd.2022.04.010. PMID: 35709922
Zhang L, Xu K, Ma L, Shao C, Gong C, Yu N
Abdom Radiol (NY) 2022 Dec;47(12):4186-4194. Epub 2022 Sep 19 doi: 10.1007/s00261-022-03664-5. PMID: 36121456
Lei N, Zhang X, Wei M, Lao B, Xu X, Zhang M, Chen H, Xu Y, Xia B, Zhang D, Dong C, Fu L, Tang F, Wu Y
BMC Med Inform Decis Mak 2022 Aug 1;22(1):205. doi: 10.1186/s12911-022-01951-1. PMID: 35915457Free PMC Article
Mansouri I, Raffray M, Lassalle M, de Vathaire F, Fresneau B, Fayech C, Lazareth H, Haddy N, Bayat S, Couchoud C; group REDSIAM.
Nephrol Ther 2022 Jul;18(4):255-262. Epub 2022 Jun 27 doi: 10.1016/j.nephro.2022.03.003. PMID: 35773142
Wang Q, Wang Y, Wang J, Zhang L, Zhao MH; C‐STRIDE (Chinese Cohort Study of Chronic Kidney Disease)* †.
J Am Heart Assoc 2020 Jun 16;9(12):e015359. Epub 2020 Jun 6 doi: 10.1161/JAHA.120.015359. PMID: 32508195Free PMC Article

Clinical prediction guides

Borrelli S, Garofalo C, Gabbai FB, Chiodini P, Signoriello S, Paoletti E, Ravera M, Bussalino E, Bellizzi V, Liberti ME, De Nicola L, Minutolo R
Am J Kidney Dis 2023 Jan;81(1):15-24.e1. Epub 2022 Jun 13 doi: 10.1053/j.ajkd.2022.04.010. PMID: 35709922
Hammett C, Badve SV, Kerr PG, Tran HA, Dundon BK, Lo S, Wong A, Joseph JE, Deague J, Perkovic V
Heart Lung Circ 2022 Dec;31(12):1604-1611. Epub 2022 Nov 3 doi: 10.1016/j.hlc.2022.09.003. PMID: 36336614
Zhang L, Xu K, Ma L, Shao C, Gong C, Yu N
Abdom Radiol (NY) 2022 Dec;47(12):4186-4194. Epub 2022 Sep 19 doi: 10.1007/s00261-022-03664-5. PMID: 36121456
Lei N, Zhang X, Wei M, Lao B, Xu X, Zhang M, Chen H, Xu Y, Xia B, Zhang D, Dong C, Fu L, Tang F, Wu Y
BMC Med Inform Decis Mak 2022 Aug 1;22(1):205. doi: 10.1186/s12911-022-01951-1. PMID: 35915457Free PMC Article
Shen Y, Wang J, Yuan J, Yang L, Yu F, Wang X, Zhao MH, Zhang L, Zha Y; Chinese Cohort Study of Chronic Kidney Disease (C-STRIDE).
BMC Nephrol 2021 Feb 22;22(1):64. doi: 10.1186/s12882-021-02247-8. PMID: 33618679Free PMC Article

Recent systematic reviews

Lei N, Zhang X, Wei M, Lao B, Xu X, Zhang M, Chen H, Xu Y, Xia B, Zhang D, Dong C, Fu L, Tang F, Wu Y
BMC Med Inform Decis Mak 2022 Aug 1;22(1):205. doi: 10.1186/s12911-022-01951-1. PMID: 35915457Free PMC Article
Lan J, Zhang H, Sheng R, He Y
Scott Med J 2022 Nov;67(4):144-156. Epub 2022 Jul 21 doi: 10.1177/00369330221112175. PMID: 35862029
Zuo Q, Wang T, Zhu L, Li X, Luo Q
Ren Fail 2022 Dec;44(1):94-102. doi: 10.1080/0886022X.2021.2021237. PMID: 35156909Free PMC Article
Al Khalaf S, Bodunde E, Maher GM, O'Reilly ÉJ, McCarthy FP, O'Shaughnessy MM, O'Neill SM, Khashan AS
Am J Obstet Gynecol 2022 May;226(5):656-670.e32. Epub 2021 Nov 2 doi: 10.1016/j.ajog.2021.10.037. PMID: 34736915
Liu J, Varghese BM, Hansen A, Borg MA, Zhang Y, Driscoll T, Morgan G, Dear K, Gourley M, Capon A, Bi P
Sci Total Environ 2021 Dec 20;801:149806. Epub 2021 Aug 21 doi: 10.1016/j.scitotenv.2021.149806. PMID: 34467930

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