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Nephrotic syndrome, type 9(NPHS9)

MedGen UID:
816295
•Concept ID:
C3809965
•
Disease or Syndrome
Synonym: NPHS9
 
Gene (location): COQ8B (19q13.2)
 
Monarch Initiative: MONDO:0014257
OMIM®: 615573

Definition

Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, 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
Glomerular sclerosis
MedGen UID:
61248
•Concept ID:
C0178664
•
Disease or Syndrome
Accumulation of scar tissue within the glomerulus.
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
Edema
MedGen UID:
4451
•Concept ID:
C0013604
•
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
See: Feature record | Search on this feature
Hypoalbuminemia
MedGen UID:
68694
•Concept ID:
C0239981
•
Finding
Reduction in the concentration of albumin in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

AL amyloidosis: advances in diagnostics and treatment.
Ryšavá R
Nephrol Dial Transplant 2019 Sep 1;34(9):1460-1466. doi: 10.1093/ndt/gfy291. PMID: 30299492
Treatment and outcome of congenital nephrotic syndrome.
Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouvière C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Morinière V, Salomon R, Boyer O
Nephrol Dial Transplant 2019 Mar 1;34(3):458-467. doi: 10.1093/ndt/gfy015. PMID: 29474669
Management of congenital nephrotic syndrome of the Finnish type.
Holmberg C, Antikainen M, Rönnholm K, Ala Houhala M, Jalanko H
Pediatr Nephrol 1995 Feb;9(1):87-93. doi: 10.1007/BF00858984. PMID: 7742232

Recent clinical studies

Etiology

Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome.
Skeby CK, Hummelgaard S, Gustafsen C, Petrillo F, Frederiksen KP, Olsen D, Kristensen T, Ivarsen P, Madsen P, Christensen EI, Nielsen R, Birn H, Glerup S, Weyer K
Kidney Int 2023 Oct;104(4):754-768. Epub 2023 Jul 3 doi: 10.1016/j.kint.2023.06.024. PMID: 37406929
Protein convertase subtilisin/kexin type 9 biology in nephrotic syndrome: implications for use as therapy.
Busuioc RM, Covic A, Kanbay M, Banach M, Burlacu A, Mircescu G
Nephrol Dial Transplant 2020 Oct 1;35(10):1663-1674. doi: 10.1093/ndt/gfz108. PMID: 31157893
Collapsing glomerulopathy: update.
Morales E, Alonso M, Gutiérrez E
Med Clin (Barc) 2019 May 3;152(9):361-367. Epub 2018 Dec 13 doi: 10.1016/j.medcli.2018.10.021. PMID: 30554809
AL amyloidosis: advances in diagnostics and treatment.
Ryšavá R
Nephrol Dial Transplant 2019 Sep 1;34(9):1460-1466. doi: 10.1093/ndt/gfy291. PMID: 30299492
Al amyloidosis.
Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A; Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales
Orphanet J Rare Dis 2012 Aug 21;7:54. doi: 10.1186/1750-1172-7-54. PMID: 22909024Free PMC Article

Diagnosis

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
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
Collapsing glomerulopathy: update.
Morales E, Alonso M, Gutiérrez E
Med Clin (Barc) 2019 May 3;152(9):361-367. Epub 2018 Dec 13 doi: 10.1016/j.medcli.2018.10.021. PMID: 30554809
AL amyloidosis: advances in diagnostics and treatment.
Ryšavá R
Nephrol Dial Transplant 2019 Sep 1;34(9):1460-1466. doi: 10.1093/ndt/gfy291. PMID: 30299492
Al amyloidosis.
Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A; Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales
Orphanet J Rare Dis 2012 Aug 21;7:54. doi: 10.1186/1750-1172-7-54. PMID: 22909024Free PMC Article

Therapy

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L
Pediatr Nephrol 2020 May;35(5):829-842. Epub 2020 Feb 12 doi: 10.1007/s00467-019-04436-y. PMID: 32052153Free PMC Article
Protein convertase subtilisin/kexin type 9 biology in nephrotic syndrome: implications for use as therapy.
Busuioc RM, Covic A, Kanbay M, Banach M, Burlacu A, Mircescu G
Nephrol Dial Transplant 2020 Oct 1;35(10):1663-1674. doi: 10.1093/ndt/gfz108. PMID: 31157893
Proprotein convertase subtilisin/kexin type 9 in kidney disease.
Schmit D, Fliser D, Speer T
Nephrol Dial Transplant 2019 Aug 1;34(8):1266-1271. doi: 10.1093/ndt/gfz122. PMID: 31190079
Treatment of idiopathic membranous nephropathy.
Hofstra JM, Fervenza FC, Wetzels JF
Nat Rev Nephrol 2013 Aug;9(8):443-58. Epub 2013 Jul 2 doi: 10.1038/nrneph.2013.125. PMID: 23820815

Prognosis

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
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
Collapsing glomerulopathy: update.
Morales E, Alonso M, Gutiérrez E
Med Clin (Barc) 2019 May 3;152(9):361-367. Epub 2018 Dec 13 doi: 10.1016/j.medcli.2018.10.021. PMID: 30554809
AL amyloidosis: advances in diagnostics and treatment.
Ryšavá R
Nephrol Dial Transplant 2019 Sep 1;34(9):1460-1466. doi: 10.1093/ndt/gfy291. PMID: 30299492
Al amyloidosis.
Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A; Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales
Orphanet J Rare Dis 2012 Aug 21;7:54. doi: 10.1186/1750-1172-7-54. PMID: 22909024Free PMC Article

Clinical prediction guides

ANGPTL3 impacts proteinuria and hyperlipidemia in primary nephrotic syndrome.
Zhong F, Liu S, Li Y, Li G, Liu M, Wang J, Cui W, Suo Y, Gao X
Lipids Health Dis 2022 Apr 10;21(1):38. doi: 10.1186/s12944-022-01632-y. PMID: 35399079Free PMC Article
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
Glomerular diseases: membranous nephropathy--a modern view.
Ponticelli C, Glassock RJ
Clin J Am Soc Nephrol 2014 Mar;9(3):609-16. Epub 2013 Jun 27 doi: 10.2215/CJN.04160413. PMID: 23813556Free PMC Article
Treatment of idiopathic membranous nephropathy.
Hofstra JM, Fervenza FC, Wetzels JF
Nat Rev Nephrol 2013 Aug;9(8):443-58. Epub 2013 Jul 2 doi: 10.1038/nrneph.2013.125. PMID: 23820815

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
Sphingosine phosphate lyase insufficiency syndrome: a systematic review.
Pournasiri Z, Madani A, Nazarpack F, Sayer JA, Chavoshzadeh Z, Nili F, Tran P, Saba JD, Jamee M
World J Pediatr 2023 May;19(5):425-437. Epub 2022 Nov 12 doi: 10.1007/s12519-022-00615-4. PMID: 36371483
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
Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Adrenocorticotropic hormone therapy for the treatment of idiopathic nephrotic syndrome in children and young adults: a systematic review of early clinical studies with contemporary relevance.
Lieberman KV, Pavlova-Wolf A
J Nephrol 2017 Feb;30(1):35-44. Epub 2016 Apr 16 doi: 10.1007/s40620-016-0308-3. PMID: 27084801Free PMC Article

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