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Nephrotic syndrome, type 17(NPHS17)

MedGen UID:
1648294
Concept ID:
C4748545
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 17; NPHS17
 
Gene (location): NUP85 (17q25.1)
 
Monarch Initiative: MONDO:0032580
OMIM®: 618176

Definition

Nephrotic syndrome type 17 (NPHS17), 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.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
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.
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.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Professional guidelines

PubMed

Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free 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

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