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Renal amyloidosis

MedGen UID:
120633
Concept ID:
C0268382
Disease or Syndrome
Synonyms: Amyloid nephropathy; Lardaceous kidney; Nephropathic amyloidosis; Soapy kidney; Waxy kidney
SNOMED CT: Nephropathic amyloidosis (48713002); Amyloid nephropathy (48713002); Soapy kidney (48713002); Waxy kidney (48713002); Renal amyloidosis (48713002); Lardaceous kidney (48713002)
 
HPO: HP:0001917

Definition

A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). [from HPO]

Conditions with this feature

Familial Mediterranean fever
MedGen UID:
45811
Concept ID:
C0031069
Disease or Syndrome
Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
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.
Familial amyloid nephropathy with urticaria AND deafness
MedGen UID:
120634
Concept ID:
C0268390
Disease or Syndrome
Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).
Familial Mediterranean fever, autosomal dominant
MedGen UID:
341987
Concept ID:
C1851347
Disease or Syndrome
Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
Familial cold autoinflammatory syndrome 1
MedGen UID:
1647324
Concept ID:
C4551895
Disease or Syndrome
Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. FCAS1 is the least severe form of CAPS, MWS is intermediate in severity, and NOMID is the most severe form.\n\nThe signs and symptoms of CAPS affect multiple body systems. Generally, CAPS are characterized by periodic episodes of skin rash, fever, and joint pain. These episodes can be triggered by exposure to cold temperatures, fatigue, other stressors, or they may arise spontaneously. Episodes can last from a few hours to several days. These episodes typically begin in infancy or early childhood and persist throughout life.\n\nWhile the CAPS spectrum shares similar signs and symptoms, the individual conditions tend to have distinct patterns of features. People with FCAS1 are particularly sensitive to the cold, and exposure to cold temperatures can trigger a painful or burning rash. The rash usually affects the torso and limbs but may spread to the rest of the body. In addition to fever and joint pain, other possible symptoms include muscle aches, chills, drowsiness, eye redness, headache, and nausea.\n\nIndividuals with MWS develop the typical periodic episodes of skin rash, fever, and joint pain after cold exposure, although episodes may occur spontaneously or all the time. Additionally, they can develop progressive hearing loss in their teenage years. Other features of MWS include skin lesions or kidney damage from abnormal deposits of a protein called amyloid (amyloidosis).\n\nIn people with NOMID, the signs and symptoms of the condition are usually present from birth and persists throughout life. In addition to skin rash and fever, affected individuals may have joint inflammation, swelling, and joint deformities called contractures that may restrict movement. People with NOMID typically have headaches, seizures, and cognitive impairment resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Other features of NOMID include eye problems, short stature, distinctive facial features, and kidney damage caused by amyloidosis.

Professional guidelines

PubMed

Nie G, Sun L, Zhang C, Yuan Y, Mao H, Wang Z, Li J, Duan S, Xing C, Zhang B
Front Immunol 2022;13:903315. Epub 2022 Sep 12 doi: 10.3389/fimmu.2022.903315. PMID: 36172352Free PMC Article
Gurung R, Li T
Am J Med 2022 Apr;135 Suppl 1:S38-S43. Epub 2022 Jan 24 doi: 10.1016/j.amjmed.2022.01.003. PMID: 35085515
Law S, Fontana M, Gillmore JD
Cardiol Clin 2021 Aug;39(3):389-402. doi: 10.1016/j.ccl.2021.04.010. PMID: 34247752

Recent clinical studies

Etiology

Feitosa VA, Neves PDMM, Jorge LB, Noronha IL, Onuchic LF
Braz J Med Biol Res 2022;55:e12284. Epub 2022 Oct 3 doi: 10.1590/1414-431X2022e12284. PMID: 36197414Free PMC Article
Mann BK, Bhandohal JS, Cobos E, Chitturi C, Eppanapally S
J Investig Med 2022 Feb;70(2):348-353. Epub 2021 Nov 30 doi: 10.1136/jim-2021-002149. PMID: 34848562
Gupta N, Kaur H, Wajid S
Protoplasma 2020 Sep;257(5):1259-1276. Epub 2020 May 24 doi: 10.1007/s00709-020-01513-0. PMID: 32447467
Sethi S, Theis JD
J Nephrol 2018 Jun;31(3):343-350. Epub 2017 Aug 21 doi: 10.1007/s40620-017-0426-6. PMID: 28828707
Bilginer Y, Akpolat T, Ozen S
Pediatr Nephrol 2011 Aug;26(8):1215-27. Epub 2011 Mar 1 doi: 10.1007/s00467-011-1797-x. PMID: 21360109Free PMC Article

Diagnosis

Lancieri M, Bustaffa M, Palmeri S, Prigione I, Penco F, Papa R, Volpi S, Caorsi R, Gattorno M
Int J Mol Sci 2023 May 31;24(11) doi: 10.3390/ijms24119584. PMID: 37298536Free PMC Article
Feitosa VA, Neves PDMM, Jorge LB, Noronha IL, Onuchic LF
Braz J Med Biol Res 2022;55:e12284. Epub 2022 Oct 3 doi: 10.1590/1414-431X2022e12284. PMID: 36197414Free PMC Article
Gurung R, Li T
Am J Med 2022 Apr;135 Suppl 1:S38-S43. Epub 2022 Jan 24 doi: 10.1016/j.amjmed.2022.01.003. PMID: 35085515
Herrera GA
Ultrastruct Pathol 2021 Jul-Sep;45(4-5):267-275. Epub 2021 Sep 5 doi: 10.1080/01913123.2021.1972065. PMID: 34482805
Gupta N, Kaur H, Wajid S
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Therapy

Nasr SH, Alehashemi S, Dasari S, Waldman M, Afzali B, Chiu A, Bolanos J, Goldbach-Mansky R, McPhail ED
Kidney Int 2024 Feb;105(2):395-396. doi: 10.1016/j.kint.2023.08.020. PMID: 38245224Free PMC Article
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Int J Mol Sci 2023 May 31;24(11) doi: 10.3390/ijms24119584. PMID: 37298536Free PMC Article
Feitosa VA, Neves PDMM, Jorge LB, Noronha IL, Onuchic LF
Braz J Med Biol Res 2022;55:e12284. Epub 2022 Oct 3 doi: 10.1590/1414-431X2022e12284. PMID: 36197414Free PMC Article
Gurung R, Li T
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Lachmann HJ, Gillmore JD
Br J Hosp Med (Lond) 2010 Feb;71(2):83-6. doi: 10.12968/hmed.2010.71.2.46485. PMID: 20220695

Prognosis

Hegazy MT, Fayed A, Nuzzolese R, Sota J, Ragab G
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Feitosa VA, Neves PDMM, Jorge LB, Noronha IL, Onuchic LF
Braz J Med Biol Res 2022;55:e12284. Epub 2022 Oct 3 doi: 10.1590/1414-431X2022e12284. PMID: 36197414Free PMC Article
Gupta N, Kaur H, Wajid S
Protoplasma 2020 Sep;257(5):1259-1276. Epub 2020 May 24 doi: 10.1007/s00709-020-01513-0. PMID: 32447467
Sethi S, Theis JD
J Nephrol 2018 Jun;31(3):343-350. Epub 2017 Aug 21 doi: 10.1007/s40620-017-0426-6. PMID: 28828707
Jazbeh S, Said A, Haddad RY, Hamad A, Lerma EV
Dis Mon 2014 Oct;60(10):489-93. Epub 2014 Oct 1 doi: 10.1016/j.disamonth.2014.08.003. PMID: 25280992

Clinical prediction guides

Dang J, Ferlicot S, Misrahi M, Mussini C, Kounis I, Rémy P, Samuel D, Planté-Bordeneuve V, Adams D, Funalot B, Snanoudj R, Damy T, Moktefi A, Audard V, Zaidan M
Nephrol Dial Transplant 2023 Aug 31;38(9):2019-2030. doi: 10.1093/ndt/gfad006. PMID: 36646436
Ayed A, Salem MB, Letaief A, Salah MB, Handous I, Hamouda M, Aloui S, Skhiri H
Saudi J Kidney Dis Transpl 2022 May-Jun;33(3):432-439. doi: 10.4103/1319-2442.385967. PMID: 37843145
Khellaf G, Benziane A, Kaci L, Benabadji M
Clin Nephrol 2022 Mar;97(3):167-172. doi: 10.5414/CN110577. PMID: 34889732
Engineer DP, Kute VB, Patel HV, Shah PR
Saudi J Kidney Dis Transpl 2018 Sep-Oct;29(5):1065-1072. doi: 10.4103/1319-2442.243966. PMID: 30381502
Yazaki M, Yoshinaga T, Sekijima Y, Kametani F, Okumura N
Int J Mol Sci 2018 Jan 22;19(1) doi: 10.3390/ijms19010320. PMID: 29361747Free PMC Article

Recent systematic reviews

Patel D, Agarwal R, Dhooria S, Hedge U, Patel H, Singh Sehgal I
J Mycol Med 2019 Dec;29(4):372-374. Epub 2019 Sep 12 doi: 10.1016/j.mycmed.2019.100898. PMID: 31570305

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