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Nephrotic syndrome 16(NPHS16)

MedGen UID:
1622427
Concept ID:
C4540453
Disease or Syndrome
Synonyms: NEPHROTIC SYNDROME, TYPE 16; NPHS16
 
Gene (location): KANK2 (19p13.2)
 
Monarch Initiative: MONDO:0033280
OMIM®: 617783

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.
Lipoid nephrosis
MedGen UID:
10307
Concept ID:
C0027721
Disease or Syndrome
The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.

Professional guidelines

PubMed

Velosa JA, Torres VE, Donadio JV Jr, Wagoner RD, Holley KE, Offord KP
Mayo Clin Proc 1985 Sep;60(9):586-92. doi: 10.1016/s0025-6196(12)60980-x. PMID: 4021548

Recent clinical studies

Etiology

Lan L, Lin Y, Yu B, Wang Y, Pan H, Wang H, Lou X, Lang X, Zhang Q, Jin L, Yang Y, Xiao L, Chen J, Han F
Am J Nephrol 2024;55(1):25-36. Epub 2023 Nov 14 doi: 10.1159/000535010. PMID: 37963441
von Groote TC, Williams G, Au EH, Chen Y, Mathew AT, Hodson EM, Tunnicliffe DJ
Cochrane Database Syst Rev 2021 Nov 15;11(11):CD004293. doi: 10.1002/14651858.CD004293.pub4. PMID: 34778952Free PMC Article
Gerstle K, Hashmat S, Clardy C, Hageman JR
Pediatr Ann 2020 Jun 1;49(6):e258-e261. doi: 10.3928/19382359-20200520-01. PMID: 32520366
Noone DG, Iijima K, Parekh R
Lancet 2018 Jul 7;392(10141):61-74. Epub 2018 Jun 14 doi: 10.1016/S0140-6736(18)30536-1. PMID: 29910038
Ponticelli C, Zucchelli P, Passerini P, Gagnoli L, Imbasciati E
Adv Nephrol Necker Hosp 1987;16:195-218. PMID: 3101424

Diagnosis

Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Lee TH, Kuo G, Chang CH, Huang YT, Yen CL, Lee CC, Fan PC, Chen JJ
PLoS One 2021;16(12):e0260312. Epub 2021 Dec 1 doi: 10.1371/journal.pone.0260312. PMID: 34851962Free PMC Article
Whayne TF Jr, Fisher MB
Cardiovasc Hematol Agents Med Chem 2018;16(2):88-93. doi: 10.2174/1871525717666181211141227. PMID: 30539703
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F
Nat Commun 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w. PMID: 29773874Free PMC Article
Abt AB, Cohen AH
Semin Nephrol 1996 Nov;16(6):501-10. PMID: 9125794

Therapy

Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Lee TH, Kuo G, Chang CH, Huang YT, Yen CL, Lee CC, Fan PC, Chen JJ
PLoS One 2021;16(12):e0260312. Epub 2021 Dec 1 doi: 10.1371/journal.pone.0260312. PMID: 34851962Free PMC Article
von Groote TC, Williams G, Au EH, Chen Y, Mathew AT, Hodson EM, Tunnicliffe DJ
Cochrane Database Syst Rev 2021 Nov 15;11(11):CD004293. doi: 10.1002/14651858.CD004293.pub4. PMID: 34778952Free PMC Article
Angeletti A, Bruschi M, Bianchin S, Bonato I, Montobbio C, Verrina E, Lugani F, Cravedi P, Ghiggeri GM
Clin J Am Soc Nephrol 2021 Jun;16(6):937-938. Epub 2021 Jun 11 doi: 10.2215/CJN.01890221. PMID: 34117084Free PMC Article
Noone DG, Iijima K, Parekh R
Lancet 2018 Jul 7;392(10141):61-74. Epub 2018 Jun 14 doi: 10.1016/S0140-6736(18)30536-1. PMID: 29910038

Prognosis

Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Gerstle K, Hashmat S, Clardy C, Hageman JR
Pediatr Ann 2020 Jun 1;49(6):e258-e261. doi: 10.3928/19382359-20200520-01. PMID: 32520366
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
Noone DG, Iijima K, Parekh R
Lancet 2018 Jul 7;392(10141):61-74. Epub 2018 Jun 14 doi: 10.1016/S0140-6736(18)30536-1. PMID: 29910038
Abt AB, Cohen AH
Semin Nephrol 1996 Nov;16(6):501-10. PMID: 9125794

Clinical prediction guides

Lan L, Lin Y, Yu B, Wang Y, Pan H, Wang H, Lou X, Lang X, Zhang Q, Jin L, Yang Y, Xiao L, Chen J, Han F
Am J Nephrol 2024;55(1):25-36. Epub 2023 Nov 14 doi: 10.1159/000535010. PMID: 37963441
Chaba A, Devresse A, Audard V, Boffa JJ, Karras A, Cartery C, Deltombe C, Chemouny J, Contamin C, Courivaud C, Duquennoy S, Garcia H, Joly D, Goumri N, Hanouna G, Halimi JM, Plaisier E, Hamidou M, Landron C, Launay D, Lebas C, Legendre M, Masseau A, Mathian A, Mercadal L, Morel N, Mutinelli-Szymanski P, Palat S, Pennaforte JL, Peraldi MN, Pozdzik A, Schleinitz N, Thaunat O, Titeca-Beauport D, Mussini C, Touati S, Prinz E, Faller AL, Richter S, Vilaine E, Ferlicot S, Von-Kotze C, Belliere J, Olagne J, Mesbah R, Snanoudj R, Nouvier M, Ebbo M, Zaidan M
Clin J Am Soc Nephrol 2023 Aug 1;18(8):1031-1040. Epub 2023 Jun 7 doi: 10.2215/CJN.0000000000000193. PMID: 37283461Free PMC Article
Fernández-Juárez G, Rojas-Rivera J, Logt AV, Justino J, Sevillano A, Caravaca-Fontán F, Ávila A, Rabasco C, Cabello V, Varela A, Díez M, Martín-Reyes G, Diezhandino MG, Quintana LF, Agraz I, Gómez-Martino JR, Cao M, Rodríguez-Moreno A, Rivas B, Galeano C, Bonet J, Romera A, Shabaka A, Plaisier E, Espinosa M, Egido J, Segarra A, Lambeau G, Ronco P, Wetzels J, Praga M; STARMEN Investigators
Kidney Int 2021 Apr;99(4):986-998. Epub 2020 Nov 7 doi: 10.1016/j.kint.2020.10.014. PMID: 33166580
Gerstle K, Hashmat S, Clardy C, Hageman JR
Pediatr Ann 2020 Jun 1;49(6):e258-e261. doi: 10.3928/19382359-20200520-01. PMID: 32520366
Hansrivijit P, Cheungpasitporn W, Thongprayoon C, Ghahramani N
BMC Nephrol 2020 Apr 15;21(1):134. doi: 10.1186/s12882-020-01797-7. PMID: 32293308Free PMC Article

Recent systematic reviews

Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Lee TH, Kuo G, Chang CH, Huang YT, Yen CL, Lee CC, Fan PC, Chen JJ
PLoS One 2021;16(12):e0260312. Epub 2021 Dec 1 doi: 10.1371/journal.pone.0260312. PMID: 34851962Free PMC Article
von Groote TC, Williams G, Au EH, Chen Y, Mathew AT, Hodson EM, Tunnicliffe DJ
Cochrane Database Syst Rev 2021 Nov 15;11(11):CD004293. doi: 10.1002/14651858.CD004293.pub4. PMID: 34778952Free PMC Article
Hansrivijit P, Cheungpasitporn W, Thongprayoon C, Ghahramani N
BMC Nephrol 2020 Apr 15;21(1):134. doi: 10.1186/s12882-020-01797-7. PMID: 32293308Free PMC Article
Stabouli S, Chrysaidou K, Kupferman JC, Zafeiriou DI
Eur J Paediatr Neurol 2019 May;23(3):384-391. Epub 2019 Feb 22 doi: 10.1016/j.ejpn.2019.02.007. PMID: 30837193

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