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Nephrotic syndrome, type 18(NPHS18)

MedGen UID:
1648464
•Concept ID:
C4748549
•
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 18; NPHS18
 
Gene (location): NUP133 (1q42.13)
 
Monarch Initiative: MONDO:0032581
OMIM®: 618177

Definition

NPHS18, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (Braun et al., 2018). 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.
See: Feature record | Search on this feature
Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Stage 5 chronic kidney disease
MedGen UID:
384526
•Concept ID:
C2316810
•
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Rituximab treatment for difficult-to-treat nephrotic syndrome in children: a multicenter, retrospective study.
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
Evaluation of glucocorticoid treatment on different pathological types of primary nephrotic syndrome.
Zhang Y, Wang YY, Fu R, Yan X
J Biol Regul Homeost Agents 2019 Mar-Apr;33(2):427-432. PMID: 30974931
Management of children with congenital nephrotic syndrome: challenging treatment paradigms.
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

Rationale and design of the Japanese Biomarkers in Nephrotic Syndrome (J-MARINE) study.
Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
Epidemiological characteristics and pathological changes of primary glomerular diseases.
Li Y, Yu X, Zhang W, Lv J, Lan P, Wang Z, Sun J, Xie L, Lu W, Feng X, Jiang H, Zhang Y
PLoS One 2022;17(8):e0272237. Epub 2022 Aug 18 doi: 10.1371/journal.pone.0272237. PMID: 35980957Free PMC Article
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy.
Sethi S, Madden BJ, Debiec H, Charlesworth MC, Gross L, Ravindran A, Hummel AM, Specks U, Fervenza FC, Ronco P
J Am Soc Nephrol 2019 Jun;30(6):1123-1136. Epub 2019 May 6 doi: 10.1681/ASN.2018080852. PMID: 31061139Free PMC Article
Advances in molecular diagnosis and therapeutics in nephrotic syndrome and focal and segmental glomerulosclerosis.
Sharif B, Barua M
Curr Opin Nephrol Hypertens 2018 May;27(3):194-200. doi: 10.1097/MNH.0000000000000408. PMID: 29465426
A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness.
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

Diagnosis

Glomerulonephritis Histopathological Pattern Change.
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
Advances in molecular diagnosis and therapeutics in nephrotic syndrome and focal and segmental glomerulosclerosis.
Sharif B, Barua M
Curr Opin Nephrol Hypertens 2018 May;27(3):194-200. doi: 10.1097/MNH.0000000000000408. PMID: 29465426
Childhood nephrotic syndrome in tropical Africa: then and now.
Olowu WA, Ademola A, Ajite AB, Saad YM
Paediatr Int Child Health 2017 Nov;37(4):259-268. Epub 2017 Sep 26 doi: 10.1080/20469047.2017.1374002. PMID: 28949280
A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness.
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
Genetics and CKD.
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372

Therapy

Seroprotection against measles in previously vaccinated children with difficult-to-treat nephrotic syndrome.
Sahoo JK, Tiwari S, Chhapola V, Jais M
Pediatr Nephrol 2022 Apr;37(4):843-848. Epub 2021 Sep 25 doi: 10.1007/s00467-021-05290-7. PMID: 34564736
Evaluation of interleukin-18 in children with steroid-sensitive nephrotic syndrome before and after using levamisole.
Youssef DM, Abd Al-Atif AM, El-Khateeb SSH, Elshal AS
Saudi J Kidney Dis Transpl 2018 May-Jun;29(3):591-597. doi: 10.4103/1319-2442.235173. PMID: 29970735
A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness.
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
Rituximab in children with steroid-dependent nephrotic syndrome: experience of a tertiary center and review of the literature.
Van Horebeek I, Knops N, Van Dyck M, Levtchenko E, Mekahli D
Acta Clin Belg 2017 Jun;72(3):147-155. Epub 2016 Jul 13 doi: 10.1080/17843286.2016.1208955. PMID: 27409338
Candida spp. and gingivitis in children with nephrotic syndrome or type 1 diabetes.
Olczak-Kowalczyk D, Pyrżak B, Dąbkowska M, Pańczyk-Tomaszewska M, Miszkurka G, Rogozińska I, Swoboda-Kopeć E, Gozdowski D, Kalińska A, Piróg A, Mizerska-Wasiak M, Roszkowska-Blaim M
BMC Oral Health 2015 May 8;15:57. doi: 10.1186/s12903-015-0042-6. PMID: 25952029Free PMC Article

Prognosis

Rationale and design of the Japanese Biomarkers in Nephrotic Syndrome (J-MARINE) study.
Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
Glomerulonephritis Histopathological Pattern Change.
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
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy.
Sethi S, Madden BJ, Debiec H, Charlesworth MC, Gross L, Ravindran A, Hummel AM, Specks U, Fervenza FC, Ronco P
J Am Soc Nephrol 2019 Jun;30(6):1123-1136. Epub 2019 May 6 doi: 10.1681/ASN.2018080852. PMID: 31061139Free PMC Article
Childhood nephrotic syndrome in tropical Africa: then and now.
Olowu WA, Ademola A, Ajite AB, Saad YM
Paediatr Int Child Health 2017 Nov;37(4):259-268. Epub 2017 Sep 26 doi: 10.1080/20469047.2017.1374002. PMID: 28949280
Genetics and CKD.
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372

Clinical prediction guides

Rationale and design of the Japanese Biomarkers in Nephrotic Syndrome (J-MARINE) study.
Kurasawa S, Kato S, Ozeki T, Akiyama S, Ishimoto T, Mizuno M, Tsuboi N, Kato N, Kosugi T, Maruyama S; J-MARINE collaborators
Clin Exp Nephrol 2024 May;28(5):431-439. Epub 2024 Jan 25 doi: 10.1007/s10157-023-02449-4. PMID: 38267800
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Hou AN, Wang Y, Pan YQ
J Clin Immunol 2023 Jul;43(5):979-988. Epub 2023 Mar 3 doi: 10.1007/s10875-023-01456-0. PMID: 36867340
Glomerulonephritis Histopathological Pattern Change.
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
A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness.
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
Candida spp. and gingivitis in children with nephrotic syndrome or type 1 diabetes.
Olczak-Kowalczyk D, Pyrżak B, Dąbkowska M, Pańczyk-Tomaszewska M, Miszkurka G, Rogozińska I, Swoboda-Kopeć E, Gozdowski D, Kalińska A, Piróg A, Mizerska-Wasiak M, Roszkowska-Blaim M
BMC Oral Health 2015 May 8;15:57. doi: 10.1186/s12903-015-0042-6. PMID: 25952029Free PMC Article

Recent systematic reviews

A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Hou AN, Wang Y, Pan YQ
J Clin Immunol 2023 Jul;43(5):979-988. Epub 2023 Mar 3 doi: 10.1007/s10875-023-01456-0. PMID: 36867340
AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.
Delplanque M, Galicier L, Oziol E, Ducharme-Bénard S, Oksenhendler E, Buob D, Grateau G, Boutboul D, Georgin-Lavialle S
J Allergy Clin Immunol Pract 2021 Feb;9(2):745-752.e1. Epub 2020 Sep 30 doi: 10.1016/j.jaip.2020.09.023. PMID: 33007500
Interventions for idiopathic steroid-resistant nephrotic syndrome in children.
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
Non-corticosteroid treatment for nephrotic syndrome in children.
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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