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Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis(APLDC3)

MedGen UID:
462697
Concept ID:
C3151347
Disease or Syndrome
Synonyms: APLDC3; LIPODYSTROPHY, PARTIAL, ACQUIRED, ASSOCIATED WITH C3 NEPHRITIC FACTOR
 
Monarch Initiative: MONDO:0013488
OMIM®: 613913

Definition

Acquired partial lipodystrophy (APLD) is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. A large group of patients (83%) with acquired partial lipodystrophy have low serum levels of complement component C3 due to the presence of C3 nephritic factor, an IgG antibody that causes continuous activation of the alternative complement pathway and consumption of serum C3. About 22% of patients with this acquired complement defect develop membranoproliferative glomerulonephritis. Some individuals may also show an increased risk of infection (Misra et al., 2004). Acquired partial lipodystrophy is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1) (summary by Misra et al., 2004). See 608709 for a subtype of APLD not associated with low complement C3 or renal disease. [from OMIM]

Clinical features

From HPO
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Lipodystrophy
MedGen UID:
6111
Concept ID:
C0023787
Disease or Syndrome
Degenerative changes of the fat tissue.
Progressive loss of facial adipose tissue
MedGen UID:
332468
Concept ID:
C1837510
Finding
Loss of facial adipose tissue
MedGen UID:
325251
Concept ID:
C1837767
Finding
Loss of normal subcutaneous fat tissue in the face.
Loss of subcutaneous adipose tissue from upper limbs
MedGen UID:
870169
Concept ID:
C4024602
Finding
Mesangiocapillary glomerulonephritis
MedGen UID:
9033
Concept ID:
C0017662
Disease or Syndrome
A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Decreased circulating complement C3 concentration
MedGen UID:
332469
Concept ID:
C1837512
Finding
Concentration of the complement component C3 in the blood circulation below the lower limit of normal.

Professional guidelines

PubMed

Yu C, Li P, Dang X, Zhang X, Mao Y, Chen X
J Autoimmun 2022 Oct;132:102871. Epub 2022 Aug 20 doi: 10.1016/j.jaut.2022.102871. PMID: 35999111
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Sykes EA, Wu V, Beyea MM, Simpson MTW, Beyea JA
Can Fam Physician 2020 Apr;66(4):251-257. PMID: 32273409Free PMC Article

Recent clinical studies

Etiology

Anders HJ, Kitching AR, Leung N, Romagnani P
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Pediatr Clin North Am 2019 Feb;66(1):59-72. doi: 10.1016/j.pcl.2018.08.005. PMID: 30454751
Floege J, Amann K
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Pickering MC, D'Agati VD, Nester CM, Smith RJ, Haas M, Appel GB, Alpers CE, Bajema IM, Bedrosian C, Braun M, Doyle M, Fakhouri F, Fervenza FC, Fogo AB, Frémeaux-Bacchi V, Gale DP, Goicoechea de Jorge E, Griffin G, Harris CL, Holers VM, Johnson S, Lavin PJ, Medjeral-Thomas N, Paul Morgan B, Nast CC, Noel LH, Peters DK, Rodríguez de Córdoba S, Servais A, Sethi S, Song WC, Tamburini P, Thurman JM, Zavros M, Cook HT
Kidney Int 2013 Dec;84(6):1079-89. Epub 2013 Oct 30 doi: 10.1038/ki.2013.377. PMID: 24172683Free PMC Article

Diagnosis

Duong MD, Reidy KJ
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Rovin BH, Adler SG, Barratt J, Bridoux F, Burdge KA, Chan TM, Cook HT, Fervenza FC, Gibson KL, Glassock RJ, Jayne DRW, Jha V, Liew A, Liu ZH, Mejía-Vilet JM, Nester CM, Radhakrishnan J, Rave EM, Reich HN, Ronco P, Sanders JF, Sethi S, Suzuki Y, Tang SCW, Tesar V, Vivarelli M, Wetzels JFM, Lytvyn L, Craig JC, Tunnicliffe DJ, Howell M, Tonelli MA, Cheung M, Earley A, Floege J
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Paediatr Int Child Health 2017 Nov;37(4):240-247. Epub 2017 Sep 11 doi: 10.1080/20469047.2017.1369642. PMID: 28891413
Floege J, Amann K
Lancet 2016 May 14;387(10032):2036-48. Epub 2016 Feb 25 doi: 10.1016/S0140-6736(16)00272-5. PMID: 26921911

Therapy

Xu Y, Yang Q, Fu C, Han E, Gao Y
BMJ Open 2023 Jan 18;13(1):e064220. doi: 10.1136/bmjopen-2022-064220. PMID: 36657752Free PMC Article
Caravaca-Fontán F, Fernández-Juárez GM, Floege J, Goumenos D, Kronbichler A, Turkmen K, van Kooten C, Frangou E, Stevens KI, Segelmark M, Tesar V, Anders HJ, Bruchfeld A
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Nat Rev Nephrol 2020 Jan;16(1):32-50. Epub 2019 Aug 9 doi: 10.1038/s41581-019-0178-8. PMID: 31399725
VanDeVoorde RG 3rd
Pediatr Rev 2015 Jan;36(1):3-12; quiz 13. doi: 10.1542/pir.36-1-3. PMID: 25554106
Austin HA 3rd, Klippel JH, Balow JE, le Riche NG, Steinberg AD, Plotz PH, Decker JL
N Engl J Med 1986 Mar 6;314(10):614-9. doi: 10.1056/NEJM198603063141004. PMID: 3511372

Prognosis

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Hanly JG, O'Keeffe AG, Su L, Urowitz MB, Romero-Diaz J, Gordon C, Bae SC, Bernatsky S, Clarke AE, Wallace DJ, Merrill JT, Isenberg DA, Rahman A, Ginzler EM, Fortin P, Gladman DD, Sanchez-Guerrero J, Petri M, Bruce IN, Dooley MA, Ramsey-Goldman R, Aranow C, Alarcón GS, Fessler BJ, Steinsson K, Nived O, Sturfelt GK, Manzi S, Khamashta MA, van Vollenhoven RF, Zoma AA, Ramos-Casals M, Ruiz-Irastorza G, Lim SS, Stoll T, Inanc M, Kalunian KC, Kamen DL, Maddison P, Peschken CA, Jacobsen S, Askanase A, Theriault C, Thompson K, Farewell V
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McGrogan A, Franssen CF, de Vries CS
Nephrol Dial Transplant 2011 Feb;26(2):414-30. Epub 2010 Nov 10 doi: 10.1093/ndt/gfq665. PMID: 21068142

Clinical prediction guides

Gleeson PJ, O'Shaughnessy MM, Barratt J
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Clin J Am Soc Nephrol 2017 Jul 7;12(7):1162-1172. Epub 2017 May 17 doi: 10.2215/CJN.01380217. PMID: 28515156Free PMC Article
Trimarchi H, Barratt J, Cattran DC, Cook HT, Coppo R, Haas M, Liu ZH, Roberts IS, Yuzawa Y, Zhang H, Feehally J; IgAN Classification Working Group of the International IgA Nephropathy Network and the Renal Pathology Society; Conference Participants
Kidney Int 2017 May;91(5):1014-1021. Epub 2017 Mar 22 doi: 10.1016/j.kint.2017.02.003. PMID: 28341274
Almaani S, Meara A, Rovin BH
Clin J Am Soc Nephrol 2017 May 8;12(5):825-835. Epub 2016 Nov 7 doi: 10.2215/CJN.05780616. PMID: 27821390Free PMC Article
Pickering MC, D'Agati VD, Nester CM, Smith RJ, Haas M, Appel GB, Alpers CE, Bajema IM, Bedrosian C, Braun M, Doyle M, Fakhouri F, Fervenza FC, Fogo AB, Frémeaux-Bacchi V, Gale DP, Goicoechea de Jorge E, Griffin G, Harris CL, Holers VM, Johnson S, Lavin PJ, Medjeral-Thomas N, Paul Morgan B, Nast CC, Noel LH, Peters DK, Rodríguez de Córdoba S, Servais A, Sethi S, Song WC, Tamburini P, Thurman JM, Zavros M, Cook HT
Kidney Int 2013 Dec;84(6):1079-89. Epub 2013 Oct 30 doi: 10.1038/ki.2013.377. PMID: 24172683Free PMC Article

Recent systematic reviews

Hellmich B, Sanchez-Alamo B, Schirmer JH, Berti A, Blockmans D, Cid MC, Holle JU, Hollinger N, Karadag O, Kronbichler A, Little MA, Luqmani RA, Mahr A, Merkel PA, Mohammad AJ, Monti S, Mukhtyar CB, Musial J, Price-Kuehne F, Segelmark M, Teng YKO, Terrier B, Tomasson G, Vaglio A, Vassilopoulos D, Verhoeven P, Jayne D
Ann Rheum Dis 2024 Jan 2;83(1):30-47. doi: 10.1136/ard-2022-223764. PMID: 36927642
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Semin Nephrol 2018 Sep;38(5):435-442. doi: 10.1016/j.semnephrol.2018.05.013. PMID: 30177015
Tunnicliffe DJ, Singh-Grewal D, Kim S, Craig JC, Tong A
Arthritis Care Res (Hoboken) 2015 Oct;67(10):1440-52. doi: 10.1002/acr.22591. PMID: 25778500
Smyth A, Oliveira GH, Lahr BD, Bailey KR, Norby SM, Garovic VD
Clin J Am Soc Nephrol 2010 Nov;5(11):2060-8. Epub 2010 Aug 5 doi: 10.2215/CJN.00240110. PMID: 20688887Free PMC Article

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