U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).
See: Feature record | Search on this feature
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.
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
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.
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Treatment of severe nephrotic syndrome with meclofenamate: an uncontrolled pilot study.
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

Predictive factors of long-term disease remission after rituximab administration in patients with childhood-onset complicated steroid-dependent nephrotic syndrome: a single-center retrospective study.
Ohyama R, Fujinaga S, Sakuraya K, Hirano D, Ito S
Clin Exp Nephrol 2023 Oct;27(10):865-872. Epub 2023 Jul 21 doi: 10.1007/s10157-023-02374-6. PMID: 37477752
Pediatric Hypertension and End-Stage Renal Disease.
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
Nephrotic Syndrome is Associated with Increased Risk of Ischemic Stroke.
Huang JA, Lin CH, Chang YT, Lee CT, Wu MJ
J Stroke Cerebrovasc Dis 2019 Nov;28(11):104322. Epub 2019 Aug 16 doi: 10.1016/j.jstrokecerebrovasdis.2019.104322. PMID: 31427188
Idiopathic nephrotic syndrome in children.
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
Subclinical pulmonary congestion is prevalent in nephrotic syndrome.
Marino F, Martorano C, Tripepi R, Bellantoni M, Tripepi G, Mallamaci F, Zoccali C
Kidney Int 2016 Feb;89(2):421-8. doi: 10.1038/ki.2015.279. PMID: 26444027

Diagnosis

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
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
Pediatric Hypertension and End-Stage Renal Disease.
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
Idiopathic "Cyclic" Edema: A Frustrating and Poorly Understood Clinical Problem.
Whayne TF Jr, Fisher MB
Cardiovasc Hematol Agents Med Chem 2018;16(2):88-93. doi: 10.2174/1871525717666181211141227. PMID: 30539703
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
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
Newer glomerular diseases.
Abt AB, Cohen AH
Semin Nephrol 1996 Nov;16(6):501-10. PMID: 9125794

Therapy

Predictive factors of long-term disease remission after rituximab administration in patients with childhood-onset complicated steroid-dependent nephrotic syndrome: a single-center retrospective study.
Ohyama R, Fujinaga S, Sakuraya K, Hirano D, Ito S
Clin Exp Nephrol 2023 Oct;27(10):865-872. Epub 2023 Jul 21 doi: 10.1007/s10157-023-02374-6. PMID: 37477752
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
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
Idiopathic nephrotic syndrome in children.
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
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
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
Subclinical pulmonary congestion is prevalent in nephrotic syndrome.
Marino F, Martorano C, Tripepi R, Bellantoni M, Tripepi G, Mallamaci F, Zoccali C
Kidney Int 2016 Feb;89(2):421-8. doi: 10.1038/ki.2015.279. PMID: 26444027

Prognosis

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
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
Pediatric Hypertension and End-Stage Renal Disease.
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
Idiopathic nephrotic syndrome in children.
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
Fibronectin non-amyloid glomerulopathy.
Yong JL, Killingsworth MC, Spicer ST, Wu XJ
Int J Clin Exp Pathol 2009 Nov 20;3(2):210-6. PMID: 20126589Free PMC Article
Newer glomerular diseases.
Abt AB, Cohen AH
Semin Nephrol 1996 Nov;16(6):501-10. PMID: 9125794

Clinical prediction guides

Predictive factors of long-term disease remission after rituximab administration in patients with childhood-onset complicated steroid-dependent nephrotic syndrome: a single-center retrospective study.
Ohyama R, Fujinaga S, Sakuraya K, Hirano D, Ito S
Clin Exp Nephrol 2023 Oct;27(10):865-872. Epub 2023 Jul 21 doi: 10.1007/s10157-023-02374-6. PMID: 37477752
Pediatric Hypertension and End-Stage Renal Disease.
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
Spectrum of pediatricbiopsy-proven renal diseases: A single center experience.
Al-Sadoon EI, Rahim KA, AlAnazi A, Faqeehi H, AlBatati S
Saudi J Kidney Dis Transpl 2020 Jan-Feb;31(1):176-181. doi: 10.4103/1319-2442.279938. PMID: 32129211
Nephrotic Syndrome is Associated with Increased Risk of Ischemic Stroke.
Huang JA, Lin CH, Chang YT, Lee CT, Wu MJ
J Stroke Cerebrovasc Dis 2019 Nov;28(11):104322. Epub 2019 Aug 16 doi: 10.1016/j.jstrokecerebrovasdis.2019.104322. PMID: 31427188
Pathogenesis of edema formation in the nephrotic syndrome.
Vande Walle JG, Donckerwolcke RA
Pediatr Nephrol 2001 Mar;16(3):283-93. doi: 10.1007/s004670000512. PMID: 11322379

Recent systematic reviews

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
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
Diuretic effect of co-administration of furosemide and albumin in comparison to furosemide therapy alone: An updated systematic review and meta-analysis.
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
Immunosuppressive treatment for primary membranous nephropathy in adults with nephrotic syndrome.
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
Rituximab therapy for focal segmental glomerulosclerosis and minimal change disease in adults: a systematic review and meta-analysis.
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
Neurological complications in childhood nephrotic syndrome: A systematic review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...