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Nephritis

MedGen UID:
14328
Concept ID:
C0027697
Disease or Syndrome
Synonyms: Kidney inflammation
SNOMED CT: Nephritis (52845002)
 
HPO: HP:0000123

Definition

The presence of inflammation affecting the kidney. [from HPO]

Term Hierarchy

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

Conditions with this feature

Berger disease
MedGen UID:
9032
Concept ID:
C0017661
Disease or Syndrome
End-stage renal disease (ESRD) is a major public health problem, affecting 1 in 1,000 individuals and with an annual death rate of 20% despite dialysis treatment. IgA nephropathy (IgAN) is the most common form of glomerulonephritis, a principal cause of ESRD worldwide, affecting up to 1.3% of the population. Kidneys of patients with IgA nephropathy show deposits of IgA-containing immune complexes with proliferation of the glomerular mesangium. Typical clinical features include onset before age 40 with hematuria and proteinuria, and episodes of gross hematuria following mucosal infections are common; 30% of patients develop progressive renal failure. Although not generally considered a hereditary disease, striking ethnic variation in prevalence (Julian et al., 1985; D'Amico, 1987) and familial clustering (Scolari et al., 1999), along with subclinical renal abnormalities among relatives of cases, suggest a genetic component (Gharavi et al., 2000). Genetic Heterogeneity of IgA Nephropathy A locus for familial IgA nephropathy, called IGAN1, on chromosome 6q22-q23, was described by Gharavi et al. (2000). Another locus, IGAN2 (613944), was identified by Paterson et al. (2007) on chromosome 2q36. IGAN3 (616818) is caused by mutation in the SPRY2 gene (602466) on chromosome 13q31. Polymorphisms in the ACE (106180) and AGT (106150) genes have been associated with progression to chronic renal failure in patients with IgA nephropathy.
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Epstein syndrome
MedGen UID:
97986
Concept ID:
C0398641
Disease or Syndrome
MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >40% of platelets >3.9 µm in diameter) and thrombocytopenia (platelet count <150 x 10(9)/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, elevation of liver enzymes, and renal disease manifesting initially as glomerular nephropathy. Before identification of the gene in which mutation is causative, MYH9, individuals with MYH9RD were diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, or Sebastian syndrome based on the combination of different clinical findings at the time of diagnosis. However, the realization that they all are due to heterozygous pathogenic variants in MYH9 and that the clinical findings often worsen throughout life as a result of late onset of non-hematologic manifestations has led the four conditions to be regarded as one disorder, now known as MYH9RD.
Progressive hereditary glomerulonephritis without deafness
MedGen UID:
98012
Concept ID:
C0403443
Disease or Syndrome
Fechtner syndrome
MedGen UID:
96041
Concept ID:
C0403445
Disease or Syndrome
MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >40% of platelets >3.9 µm in diameter) and thrombocytopenia (platelet count <150 x 10(9)/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, elevation of liver enzymes, and renal disease manifesting initially as glomerular nephropathy. Before identification of the gene in which mutation is causative, MYH9, individuals with MYH9RD were diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, or Sebastian syndrome based on the combination of different clinical findings at the time of diagnosis. However, the realization that they all are due to heterozygous pathogenic variants in MYH9 and that the clinical findings often worsen throughout life as a result of late onset of non-hematologic manifestations has led the four conditions to be regarded as one disorder, now known as MYH9RD.
Retinal venous beading
MedGen UID:
98396
Concept ID:
C0423397
Finding
Alport syndrome, X-linked recessive
MedGen UID:
292688
Concept ID:
C1567742
Disease or Syndrome
Alport syndrome (AS) is characterized by renal, cochlear, and ocular involvement. In the absence of treatment, renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with X-linked (XL) AS, and in all males and females with autosomal recessive (AR) AS. 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 autosomal dominant (AD) AS, ESRD is frequently delayed until later adulthood, SNHL is also relatively late in onset and ocular involvement is rare. Thin basement membrane nephropathy (TBMN) is characterized by persistent microscopic hematuria often first observed in childhood; progressive renal disease is relatively unusual and extrarenal abnormalities are rare.
Alport syndrome, autosomal recessive
MedGen UID:
292689
Concept ID:
C1567744
Disease or Syndrome
Alport syndrome (AS) is characterized by renal, cochlear, and ocular involvement. In the absence of treatment, renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with X-linked (XL) AS, and in all males and females with autosomal recessive (AR) AS. 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 autosomal dominant (AD) AS, ESRD is frequently delayed until later adulthood, SNHL is also relatively late in onset and ocular involvement is rare. Thin basement membrane nephropathy (TBMN) is characterized by persistent microscopic hematuria often first observed in childhood; progressive renal disease is relatively unusual and extrarenal abnormalities are rare.
Nephropathy with pretibial epidermolysis bullosa and deafness
MedGen UID:
323004
Concept ID:
C1836823
Disease or Syndrome
Torticollis keloids cryptorchidism renal dysplasia
MedGen UID:
326819
Concept ID:
C1839129
Disease or Syndrome
Thyrocerebral-retinal syndrome
MedGen UID:
341311
Concept ID:
C1848813
Disease or Syndrome
Dyschondrosteosis nephritis
MedGen UID:
342135
Concept ID:
C1851986
Disease or Syndrome
Autoimmune lymphoproliferative syndrome, type 2
MedGen UID:
349065
Concept ID:
C1858968
Disease or Syndrome
Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age; Autoimmune disease, mostly directed toward blood cells; and Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases in many affected individuals. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS is characterized by severe lymphoproliferation before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, keeping in mind that those with somatic pathogenic variants need to be better characterized, particularly with regard to the risk for lymphoma.
Plasminogen deficiency, type I
MedGen UID:
369859
Concept ID:
C1968804
Disease or Syndrome
Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003).
Complement component c1r/c1s deficiency
MedGen UID:
461624
Concept ID:
C3150274
Disease or Syndrome
Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.
Systemic lupus erythematosus 16
MedGen UID:
482372
Concept ID:
C3280742
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cell fragments involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.
Sebastian syndrome
MedGen UID:
344306
Concept ID:
C1854520
Disease or Syndrome
MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >40% of platelets >3.9 µm in diameter) and thrombocytopenia (platelet count <150 x 10(9)/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, elevation of liver enzymes, and renal disease manifesting initially as glomerular nephropathy. Before identification of the gene in which mutation is causative, MYH9, individuals with MYH9RD were diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, or Sebastian syndrome based on the combination of different clinical findings at the time of diagnosis. However, the realization that they all are due to heterozygous pathogenic variants in MYH9 and that the clinical findings often worsen throughout life as a result of late onset of non-hematologic manifestations has led the four conditions to be regarded as one disorder, now known as MYH9RD.

Recent clinical studies

Etiology

Tanha N, Pilely K, Faurschou M, Garred P, Jacobsen S
Clin Rheumatol 2017 Feb;36(2):335-341. Epub 2016 Dec 15 doi: 10.1007/s10067-016-3508-2. PMID: 27981461
Visona I, Sementilli A, Kuschnaroff LM, Franco MF
Pathol Res Pract 2015 Nov;211(11):811-5. Epub 2015 Aug 3 doi: 10.1016/j.prp.2015.07.008. PMID: 26296915
Mao S, Xuan X, Sha Y, Zhao S, Zhu C, Zhang A, Huang S
Int J Clin Exp Pathol 2015;8(3):2334-42. Epub 2015 Mar 1 PMID: 26045740Free PMC Article
Mohammad AJ, Segelmark M
J Rheumatol 2014 Jul;41(7):1366-73. Epub 2014 Jun 1 doi: 10.3899/jrheum.131038. PMID: 24882836
Chen L, Wang Z, Zhai S, Zhang H, Lu J, Chen X
Int J Artif Organs 2013 Jul;36(7):489-97. Epub 2013 May 10 doi: 10.5301/ijao.5000223. PMID: 23661557

Diagnosis

Liu Z, Wei YD, Hou Y, Xu Y, Li XJ, Du YJ
J Huazhong Univ Sci Technolog Med Sci 2016 Oct;36(5):659-666. Epub 2016 Oct 18 doi: 10.1007/s11596-016-1642-3. PMID: 27752908
Visona I, Sementilli A, Kuschnaroff LM, Franco MF
Pathol Res Pract 2015 Nov;211(11):811-5. Epub 2015 Aug 3 doi: 10.1016/j.prp.2015.07.008. PMID: 26296915
Mao S, Xuan X, Sha Y, Zhao S, Zhu C, Zhang A, Huang S
Int J Clin Exp Pathol 2015;8(3):2334-42. Epub 2015 Mar 1 PMID: 26045740Free PMC Article
Mohammad AJ, Segelmark M
J Rheumatol 2014 Jul;41(7):1366-73. Epub 2014 Jun 1 doi: 10.3899/jrheum.131038. PMID: 24882836
Fuentes Y, Hernández AM, García-Roca P, Valverde S, Velásquez-Jones LF, Sosa G, Duarte-Durán UO, Ortíz L, Maldonado R, Faugier E, Ramón-García G, Medeiros M
Pediatr Nephrol 2014 Jun;29(6):1047-52. Epub 2014 Jan 12 doi: 10.1007/s00467-013-2740-0. PMID: 24414608

Therapy

Han F, Chen LL, Ren PP, Le JY, Choong PJ, Wang HJ, Xu Y, Chen JH
J Zhejiang Univ Sci B 2015 Sep;16(9):772-9. doi: 10.1631/jzus.B1400335. PMID: 26365119Free PMC Article
Kvirkvelia N, McMenamin M, Gutierrez VI, Lasareishvili B, Madaio MP
Am J Physiol Renal Physiol 2015 Oct 15;309(8):F680-4. Epub 2015 Aug 19 doi: 10.1152/ajprenal.00289.2015. PMID: 26290372Free PMC Article
Chen JY, Mao JH
World J Pediatr 2015 Feb;11(1):29-34. Epub 2014 Dec 29 doi: 10.1007/s12519-014-0534-5. PMID: 25557596
Kometani H, Kawatani M, Ohta G, Okazaki S, Ogura K, Yasutomi M, Tanizawa A, Ohshima Y
Brain Dev 2014 Jun;36(6):551-3. Epub 2013 Aug 24 doi: 10.1016/j.braindev.2013.07.012. PMID: 23978488
Chen L, Wang Z, Zhai S, Zhang H, Lu J, Chen X
Int J Artif Organs 2013 Jul;36(7):489-97. Epub 2013 May 10 doi: 10.5301/ijao.5000223. PMID: 23661557

Prognosis

Tanha N, Pilely K, Faurschou M, Garred P, Jacobsen S
Clin Rheumatol 2017 Feb;36(2):335-341. Epub 2016 Dec 15 doi: 10.1007/s10067-016-3508-2. PMID: 27981461
Kvirkvelia N, McMenamin M, Gutierrez VI, Lasareishvili B, Madaio MP
Am J Physiol Renal Physiol 2015 Oct 15;309(8):F680-4. Epub 2015 Aug 19 doi: 10.1152/ajprenal.00289.2015. PMID: 26290372Free PMC Article
Mao S, Xuan X, Sha Y, Zhao S, Zhu C, Zhang A, Huang S
Int J Clin Exp Pathol 2015;8(3):2334-42. Epub 2015 Mar 1 PMID: 26045740Free PMC Article
Nasri H
Iran J Allergy Asthma Immunol 2014 Dec;13(6):456-8. PMID: 25148806
Mohammad AJ, Segelmark M
J Rheumatol 2014 Jul;41(7):1366-73. Epub 2014 Jun 1 doi: 10.3899/jrheum.131038. PMID: 24882836

Clinical prediction guides

Liu Z, Wei YD, Hou Y, Xu Y, Li XJ, Du YJ
J Huazhong Univ Sci Technolog Med Sci 2016 Oct;36(5):659-666. Epub 2016 Oct 18 doi: 10.1007/s11596-016-1642-3. PMID: 27752908
Visona I, Sementilli A, Kuschnaroff LM, Franco MF
Pathol Res Pract 2015 Nov;211(11):811-5. Epub 2015 Aug 3 doi: 10.1016/j.prp.2015.07.008. PMID: 26296915
Kvirkvelia N, McMenamin M, Gutierrez VI, Lasareishvili B, Madaio MP
Am J Physiol Renal Physiol 2015 Oct 15;309(8):F680-4. Epub 2015 Aug 19 doi: 10.1152/ajprenal.00289.2015. PMID: 26290372Free PMC Article
Mao S, Xuan X, Sha Y, Zhao S, Zhu C, Zhang A, Huang S
Int J Clin Exp Pathol 2015;8(3):2334-42. Epub 2015 Mar 1 PMID: 26045740Free PMC Article
Fuentes Y, Hernández AM, García-Roca P, Valverde S, Velásquez-Jones LF, Sosa G, Duarte-Durán UO, Ortíz L, Maldonado R, Faugier E, Ramón-García G, Medeiros M
Pediatr Nephrol 2014 Jun;29(6):1047-52. Epub 2014 Jan 12 doi: 10.1007/s00467-013-2740-0. PMID: 24414608

Recent systematic reviews

Zhong W, Zhou TB, Jiang Z
Ren Fail 2015 Apr;37(3):372-6. Epub 2015 Jan 14 doi: 10.3109/0886022X.2014.1000802. PMID: 25585947
Niu Z, Zhang P, Tong Y
Int J Rheum Dis 2015 Jan;18(1):17-28. Epub 2014 Dec 26 doi: 10.1111/1756-185X.12528. PMID: 25546242
Pan Q, Li Y, Ye L, Deng Z, Li L, Feng Y, Liu W, Liu H
BMC Nephrol 2014 May 1;15:67. doi: 10.1186/1471-2369-15-67. PMID: 24885458Free PMC Article
Rovin BH, Parikh SV
Am J Kidney Dis 2014 Apr;63(4):677-90. Epub 2014 Jan 7 doi: 10.1053/j.ajkd.2013.11.023. PMID: 24411715Free PMC Article
Mok CC, Yap DY, Navarra SV, Liu ZH, Zhao MH, Lu L, Takeuchi T, Avihingsanon Y, Yu XQ, Lapid EA, Lugue-Lizardo LR, Sumethkul V, Shen N, Chen SL, Chan TM; Asian Lupus Nephritis Network (ALNN).
Int J Rheum Dis 2013 Dec;16(6):625-36. Epub 2013 Oct 31 doi: 10.1111/1756-185X.12212. PMID: 24382275

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