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Nephropathy

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

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephropathy

Conditions with this feature

Balkan nephropathy
MedGen UID:
495
Concept ID:
C0004698
Disease or Syndrome
A form of chronic interstitial nephritis that is endemic to limited areas of BULGARIA, the former YUGOSLAVIA, and ROMANIA. It is characterized by a progressive shrinking of the KIDNEYS that is often associated with uroepithelial tumors.
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.
Familial juvenile gout
MedGen UID:
75651
Concept ID:
C0268113
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease caused by UMOD pathogenic variants (ADTKD-UMOD) was previously known as familial juvenile hyperuricemic nephropathy type 1 (FJHN1), medullary cystic kidney disease type 2 (MCKD2), and UMOD-associated kidney disease (or uromodulin-associated kidney disease). Typical clinical findings: Urinalysis revealing minimal protein and no blood. Slowly progressive chronic kidney failure, usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the fourth and seventh decades (Age at ESRD varies among and within families.) Hyperuricemia and gout (resulting from reduced kidney excretion of uric acid) that occurs as early as the teenage years.
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
Nail patella-like renal disease
MedGen UID:
140789
Concept ID:
C0403548
Disease or Syndrome
Glomerulopathy with giant fibrillar deposits
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.
Epilepsy, progressive myoclonic 4, with or without renal failure
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
Denys-Drash syndrome is a condition that affects the kidneys and genitalia.Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Denys-Drash syndrome, this condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumor. Affected individuals may develop multiple tumors in one or both kidneys.Although males with Denys-Drash syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically unable to have biological children (infertile).Affected females usually have normal genitalia and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction
MedGen UID:
315660
Concept ID:
C1809475
Disease or Syndrome
Wiskott-Aldrich syndrome, autosomal dominant form
MedGen UID:
322136
Concept ID:
C1833170
Disease or Syndrome
Nephropathy with pretibial epidermolysis bullosa and deafness
MedGen UID:
323004
Concept ID:
C1836823
Disease or Syndrome
Leiomyomatosis, esophageal and vulval, with nephropathy
MedGen UID:
333429
Concept ID:
C1839884
Disease or Syndrome
Methylmalonic acidemia with homocystinuria
MedGen UID:
341256
Concept ID:
C1848561
Disease or Syndrome
The clinical manifestations of disorders of intracellular cobalamin metabolism can be highly variable even within a single complementation group. The prototype and best understood is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range, including: Newborns, who can have intrauterine growth retardation (IUGR) and microcephaly; Infants, who can have poor feeding, failure to thrive, pallor, and neurologic signs, and occasionally hemolytic uremic syndrome (HUS) and/or seizures including infantile spasms; Toddlers, who can have failure to thrive, poor head growth, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures; and Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, and/or subacute combined degeneration of the spinal cord.
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
MedGen UID:
341455
Concept ID:
C1849437
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Oculorenocerebellar syndrome
MedGen UID:
340516
Concept ID:
C1850331
Disease or Syndrome
Nephropathy deafness hyperparathyroidism
MedGen UID:
340569
Concept ID:
C1850553
Disease or Syndrome
Dahlberg Borer Newcomer syndrome
MedGen UID:
383693
Concept ID:
C1855477
Disease or Syndrome
A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterised by the association of hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.
Ichthyosis, mental retardation, dwarfism and renal impairment
MedGen UID:
340966
Concept ID:
C1855787
Disease or Syndrome
Feigenbaum Bergeron Richardson syndrome
MedGen UID:
349198
Concept ID:
C1859596
Disease or Syndrome
Arthrogryposis renal dysfunction cholestasis syndrome
MedGen UID:
347219
Concept ID:
C1859722
Disease or Syndrome
A multisystem disorder with characteristics of neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Mutations in the VPS33B gene (15q26.1) have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay.
Nephropathy, progressive tubulointerstitial, with cholestatic liver disease
MedGen UID:
355562
Concept ID:
C1865831
Disease or Syndrome
Spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy
MedGen UID:
355816
Concept ID:
C1866853
Disease or Syndrome
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
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.
Multicentric osteolysis nephropathy
MedGen UID:
436237
Concept ID:
C2674705
Disease or Syndrome
Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome.
Arthrogryposis, renal dysfunction, and cholestasis 2
MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
Hyperuricemic nephropathy, familial juvenile, 3
MedGen UID:
481846
Concept ID:
C3280216
Disease or Syndrome
Cranioectodermal dysplasia 4
MedGen UID:
482246
Concept ID:
C3280616
Disease or Syndrome
Cranioectodermal dysplasia (CED), a ciliopathy also known as Sensenbrenner syndrome, is a multisystem disorder with skeletal involvement (narrow thorax, shortened proximal limbs, and brachydactyly), ectodermal features (widely-spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth retardation, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus/epicanthus, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage renal disease (ESRD) in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy, other manifestations of ciliopathies, are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
Hyperuricemic nephropathy, familial juvenile, 4
MedGen UID:
934708
Concept ID:
C4310741
Disease or Syndrome

Recent clinical studies

Etiology

Lu P, Ji X, Wan J, Xu H
Scand J Immunol 2018 Feb;87(2):99-107. Epub 2018 Jan 3 doi: 10.1111/sji.12637. PMID: 29194733
Jin J, Zhan H, Lin B, Li Y, Zhang W, He Q
Int Urol Nephrol 2017 Jun;49(6):1025-1031. Epub 2017 Mar 11 doi: 10.1007/s11255-017-1555-5. PMID: 28285376
Hu R, Xing G, Wu H, Zhang Z
Diagn Pathol 2016 Sep 13;11(1):86. doi: 10.1186/s13000-016-0538-7. PMID: 27624606Free PMC Article
Liang S, Jin J, Gong J, Lin B, Li Y, He Q
Int Urol Nephrol 2016 Dec;48(12):2109-2114. Epub 2016 Aug 31 doi: 10.1007/s11255-016-1398-5. PMID: 27580730
Chang WT, Huang MC, Chung HF, Chiu YF, Chen PS, Chen FP, Lee CY, Shin SJ, Hwang SJ, Huang YF, Hsu CC
Diabetes Res Clin Pract 2016 Oct;120:15-23. Epub 2016 Jul 28 doi: 10.1016/j.diabres.2016.07.013. PMID: 27500547

Diagnosis

Gao H, Yu X, Sun R, Yang N, He J, Tao M, Gu H, Yan C, Aa J, Wang G
J Chromatogr B Analyt Technol Biomed Life Sci 2018 Mar 1;1077-1078:28-34. Epub 2018 Jan 31 doi: 10.1016/j.jchromb.2017.12.021. PMID: 29413574
Gouvêa ALF, Cosendey RIJ, Nascimento ALR, Carvalho FR, Silva AA, de Moraes HP, Rochael MC, Varella RB, Almeida SG, Almeida JR, Lugon JR
J Med Case Rep 2017 May 24;11(1):146. doi: 10.1186/s13256-017-1300-9. PMID: 28535782Free PMC Article
Jadot I, Declèves AE, Nortier J, Caron N
Int J Mol Sci 2017 Jan 29;18(2) doi: 10.3390/ijms18020297. PMID: 28146082Free PMC Article
Terasaka T, Uchida HA, Umebayashi R, Tsukamoto K, Tanaka K, Kitagawa M, Sugiyama H, Tanioka H, Wada J
BMC Nephrol 2016 Sep 5;17(1):122. doi: 10.1186/s12882-016-0344-1. PMID: 27596164Free PMC Article
Liang S, Jin J, Gong J, Lin B, Li Y, He Q
Int Urol Nephrol 2016 Dec;48(12):2109-2114. Epub 2016 Aug 31 doi: 10.1007/s11255-016-1398-5. PMID: 27580730

Therapy

Gouvêa ALF, Cosendey RIJ, Nascimento ALR, Carvalho FR, Silva AA, de Moraes HP, Rochael MC, Varella RB, Almeida SG, Almeida JR, Lugon JR
J Med Case Rep 2017 May 24;11(1):146. doi: 10.1186/s13256-017-1300-9. PMID: 28535782Free PMC Article
Guo XS, Wu DX, Bei WJ, Li HL, Wang K, Zhou YL, Duan CY, Chen SQ, Lian D, Li LW, Liu Y, Tan N, Chen JY
J Renin Angiotensin Aldosterone Syst 2017 Apr-Jun;18(2):1470320317708894. doi: 10.1177/1470320317708894. PMID: 28490226Free PMC Article
Hintsa S, Dube L, Abay M, Angesom T, Workicho A
PLoS One 2017;12(4):e0173566. Epub 2017 Apr 12 doi: 10.1371/journal.pone.0173566. PMID: 28403160Free PMC Article
Jadot I, Declèves AE, Nortier J, Caron N
Int J Mol Sci 2017 Jan 29;18(2) doi: 10.3390/ijms18020297. PMID: 28146082Free PMC Article
Mohamed R, Jayakumar C, Chen F, Fulton D, Stepp D, Gansevoort RT, Ramesh G
J Am Soc Nephrol 2016 Mar;27(3):745-65. Epub 2015 Sep 2 doi: 10.1681/ASN.2014111136. PMID: 26334030Free PMC Article

Prognosis

Lu P, Ji X, Wan J, Xu H
Scand J Immunol 2018 Feb;87(2):99-107. Epub 2018 Jan 3 doi: 10.1111/sji.12637. PMID: 29194733
Terasaka T, Uchida HA, Umebayashi R, Tsukamoto K, Tanaka K, Kitagawa M, Sugiyama H, Tanioka H, Wada J
BMC Nephrol 2016 Sep 5;17(1):122. doi: 10.1186/s12882-016-0344-1. PMID: 27596164Free PMC Article
Liang S, Jin J, Gong J, Lin B, Li Y, He Q
Int Urol Nephrol 2016 Dec;48(12):2109-2114. Epub 2016 Aug 31 doi: 10.1007/s11255-016-1398-5. PMID: 27580730
Klein J, Ramirez-Torres A, Ericsson A, Huang Y, Breuil B, Siwy J, Mischak H, Peng XR, Bascands JL, Schanstra JP
Kidney Int 2016 Nov;90(5):1045-1055. Epub 2016 Aug 12 doi: 10.1016/j.kint.2016.06.023. PMID: 27528550
Chang WT, Huang MC, Chung HF, Chiu YF, Chen PS, Chen FP, Lee CY, Shin SJ, Hwang SJ, Huang YF, Hsu CC
Diabetes Res Clin Pract 2016 Oct;120:15-23. Epub 2016 Jul 28 doi: 10.1016/j.diabres.2016.07.013. PMID: 27500547

Clinical prediction guides

Jin J, Zhan H, Lin B, Li Y, Zhang W, He Q
Int Urol Nephrol 2017 Jun;49(6):1025-1031. Epub 2017 Mar 11 doi: 10.1007/s11255-017-1555-5. PMID: 28285376
Hu R, Xing G, Wu H, Zhang Z
Diagn Pathol 2016 Sep 13;11(1):86. doi: 10.1186/s13000-016-0538-7. PMID: 27624606Free PMC Article
Klein J, Ramirez-Torres A, Ericsson A, Huang Y, Breuil B, Siwy J, Mischak H, Peng XR, Bascands JL, Schanstra JP
Kidney Int 2016 Nov;90(5):1045-1055. Epub 2016 Aug 12 doi: 10.1016/j.kint.2016.06.023. PMID: 27528550
Chang WT, Huang MC, Chung HF, Chiu YF, Chen PS, Chen FP, Lee CY, Shin SJ, Hwang SJ, Huang YF, Hsu CC
Diabetes Res Clin Pract 2016 Oct;120:15-23. Epub 2016 Jul 28 doi: 10.1016/j.diabres.2016.07.013. PMID: 27500547
Loewe P, Stefanidis I, Mertens PR, Chatzikyrkou C
Int Urol Nephrol 2016 May;48(5):751-8. Epub 2016 Feb 12 doi: 10.1007/s11255-016-1229-8. PMID: 26873270

Recent systematic reviews

Tesch GH
Clin Sci (Lond) 2017 Aug 15;131(16):2183-2199. Epub 2017 Jul 31 doi: 10.1042/CS20160636. PMID: 28760771
Shen X, Zhang Z, Zhang X, Zhao J, Zhou X, Xu Q, Shang H, Dong J, Liao L
Lipids Health Dis 2016 Oct 12;15(1):179. doi: 10.1186/s12944-016-0350-0. PMID: 27733168Free PMC Article
Stiborová M, Arlt VM, Schmeiser HH
Arch Toxicol 2016 Nov;90(11):2595-2615. Epub 2016 Aug 19 doi: 10.1007/s00204-016-1819-3. PMID: 27538407Free PMC Article
Li Z, Li Y, Chen L
Ren Fail 2014 Nov;36(10):1473-80. Epub 2014 Aug 12 doi: 10.3109/0886022X.2014.947517. PMID: 25112155
Mao S, Huang S
Ren Fail 2014 Feb;36(1):139-44. Epub 2013 Sep 24 doi: 10.3109/0886022X.2013.832690. PMID: 24059294

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