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Nephrotic syndrome, type 24(NPHS24)

MedGen UID:
1781068
Concept ID:
C5543267
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 24; NPHS24
 
Gene (location): DAAM2 (6p21.2)
 
Monarch Initiative: MONDO:0031008
OMIM®: 619263
Orphanet: ORPHA567548

Definition

Nephrotic syndrome type 24 (NPHS24) is an autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Additional features include edema and hyperlipidemia. The disorder is slowly progressive, and most patients eventually develop end-stage renal disease. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) (summary by Schneider et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]

Clinical features

From HPO
Focal segmental glomerulosclerosis
MedGen UID:
4904
Concept ID:
C0017668
Disease or Syndrome
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
Steroid-resistant nephrotic syndrome
MedGen UID:
588369
Concept ID:
C0403397
Disease or Syndrome
A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.
Podocyte foot process effacement
MedGen UID:
481733
Concept ID:
C3280103
Finding
An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.
Renal cortical hyperechogenicity
MedGen UID:
1770764
Concept ID:
C5421632
Finding
Increased echogenecity of the kidney cortex.

Term Hierarchy

Professional guidelines

PubMed

Lu H, Xiao L, Song M, Liu X, Wang F
BMC Nephrol 2022 Mar 5;23(1):90. doi: 10.1186/s12882-022-02720-y. PMID: 35247980Free PMC Article
Taşdemir M, Canpolat N, Yıldız N, Özçelik G, Benzer M, Saygılı SK, Özkayin EN, Türkkan ÖN, Balat A, Candan C, Çelakıl M, Yavuz S, Akıncı N, Göknar N, Akgün C, Tülpar S, Alpay H, Sever FL, Bilge İ
Turk J Med Sci 2021 Aug 30;51(4):1781-1790. doi: 10.3906/sag-2012-297. PMID: 33581711Free PMC Article
Dufek S, Holtta T, Trautmann A, Ylinen E, Alpay H, Ariceta G, Aufricht C, Bacchetta J, Bakkaloglu SA, Bayazit A, Cicek RY, Dursun I, Duzova A, Ekim M, Iancu D, Jankauskiene A, Klaus G, Paglialonga F, Pasini A, Printza N, Said Conti V, do Sameiro Faria M, Schmitt CP, Stefanidis CJ, Verrina E, Vidal E, Vondrak K, Webb H, Zampetoglou A, Bockenhauer D, Edefonti A, Shroff R
Nephrol Dial Transplant 2019 Aug 1;34(8):1369-1377. doi: 10.1093/ndt/gfy165. PMID: 30215773

Recent clinical studies

Etiology

Colucci M, Angeletti A, Zotta F, Carsetti R, Lugani F, Ravà L, Ravani P, Emma F, Ghiggeri GM, Vivarelli M
Kidney Int 2023 Sep;104(3):577-586. Epub 2023 Jun 28 doi: 10.1016/j.kint.2023.06.013. PMID: 37385541
Sethi S, Madden B, Debiec H, Morelle J, Charlesworth MC, Gross L, Negron V, Buob D, Chaudhry S, Jadoul M, Fervenza FC, Ronco P
J Am Soc Nephrol 2021 May 3;32(5):1249-1261. Epub 2021 Apr 8 doi: 10.1681/ASN.2020081165. PMID: 33833079Free PMC Article
Han SS, Xu YQ, Lu Y, Gu XC, Wang Y
Medicine (Baltimore) 2017 Jun;96(24):e7191. doi: 10.1097/MD.0000000000007191. PMID: 28614261Free PMC Article
Ozkok A, Yildiz A
World J Gastroenterol 2014 Jun 28;20(24):7544-54. doi: 10.3748/wjg.v20.i24.7544. PMID: 24976695Free PMC Article
Feng M, Yuan W, Zhang R, Fu P, Wu T
Cochrane Database Syst Rev 2013 Jun 5;(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567

Diagnosis

Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free PMC Article
Falko JM
Endocr Pract 2018 Aug;24(8):756-763. doi: 10.4158/EP-2018-0157. PMID: 30183397
Han SS, Xu YQ, Lu Y, Gu XC, Wang Y
Medicine (Baltimore) 2017 Jun;96(24):e7191. doi: 10.1097/MD.0000000000007191. PMID: 28614261Free PMC Article
Ozkok A, Yildiz A
World J Gastroenterol 2014 Jun 28;20(24):7544-54. doi: 10.3748/wjg.v20.i24.7544. PMID: 24976695Free PMC Article

Therapy

Colucci M, Angeletti A, Zotta F, Carsetti R, Lugani F, Ravà L, Ravani P, Emma F, Ghiggeri GM, Vivarelli M
Kidney Int 2023 Sep;104(3):577-586. Epub 2023 Jun 28 doi: 10.1016/j.kint.2023.06.013. PMID: 37385541
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Han SS, Xu YQ, Lu Y, Gu XC, Wang Y
Medicine (Baltimore) 2017 Jun;96(24):e7191. doi: 10.1097/MD.0000000000007191. PMID: 28614261Free PMC Article
Ozkok A, Yildiz A
World J Gastroenterol 2014 Jun 28;20(24):7544-54. doi: 10.3748/wjg.v20.i24.7544. PMID: 24976695Free PMC Article
Feng M, Yuan W, Zhang R, Fu P, Wu T
Cochrane Database Syst Rev 2013 Jun 5;(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567

Prognosis

Colucci M, Angeletti A, Zotta F, Carsetti R, Lugani F, Ravà L, Ravani P, Emma F, Ghiggeri GM, Vivarelli M
Kidney Int 2023 Sep;104(3):577-586. Epub 2023 Jun 28 doi: 10.1016/j.kint.2023.06.013. PMID: 37385541
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free PMC Article
Cochat P, Fargue S, Mestrallet G, Jungraithmayr T, Koch-Nogueira P, Ranchin B, Zimmerhackl LB
Pediatr Nephrol 2009 Nov;24(11):2097-108. Epub 2009 Feb 27 doi: 10.1007/s00467-009-1137-6. PMID: 19247694Free PMC Article
Bhimma R, Coovadia HM
Am J Nephrol 2004 Mar-Apr;24(2):198-211. Epub 2004 Feb 25 doi: 10.1159/000077065. PMID: 14988643

Clinical prediction guides

Duo L, Chen L, Zuo Y, Guo J, He M, Zhao H, Kang Y, Tang W
Int Immunopharmacol 2023 Dec;125(Pt A):111126. Epub 2023 Oct 30 doi: 10.1016/j.intimp.2023.111126. PMID: 37913570
Colucci M, Angeletti A, Zotta F, Carsetti R, Lugani F, Ravà L, Ravani P, Emma F, Ghiggeri GM, Vivarelli M
Kidney Int 2023 Sep;104(3):577-586. Epub 2023 Jun 28 doi: 10.1016/j.kint.2023.06.013. PMID: 37385541
He JW, Cui DF, Zhou XJ, Chen P, Li Y, Zhang X, Wang YN, Gan T, Liu LJ, Shi SF, Zhu L, Hou P, Lv JC, Zhang H
Front Immunol 2022;13:846323. Epub 2022 Mar 11 doi: 10.3389/fimmu.2022.846323. PMID: 35359934Free PMC Article
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free PMC Article
Han SS, Xu YQ, Lu Y, Gu XC, Wang Y
Medicine (Baltimore) 2017 Jun;96(24):e7191. doi: 10.1097/MD.0000000000007191. PMID: 28614261Free PMC Article

Recent systematic reviews

Gao D, Lu LP, Zhao ZG
Int Urol Nephrol 2023 Oct;55(10):2517-2526. Epub 2023 Mar 24 doi: 10.1007/s11255-023-03561-w. PMID: 36961513
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Liu ID, Willis NS, Craig JC, Hodson EM
Cochrane Database Syst Rev 2019 Nov 21;2019(11) doi: 10.1002/14651858.CD003594.pub6. PMID: 31749142Free PMC Article
Feng M, Yuan W, Zhang R, Fu P, Wu T
Cochrane Database Syst Rev 2013 Jun 5;(6):CD006335. doi: 10.1002/14651858.CD006335.pub3. PMID: 23740567
Durkan A, Hodson E, Willis N, Craig J
Cochrane Database Syst Rev 2001;(4):CD002290. doi: 10.1002/14651858.CD002290. PMID: 11687155

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