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Diffuse mesangial sclerosis(NPHS4)

MedGen UID:
78698
Concept ID:
C0268747
Disease or Syndrome
Synonyms: Diffuse isolated mesangial sclerosis; Diffuse Mesangial Sclerosis Syndromes (DMS); Familial mesangial sclerosis; Isolated Diffuse Mesangial Sclerosis; Nephrotic syndrome, early onset with diffuse mesangial sclerosis; NEPHROTIC SYNDROME, TYPE 4; NPHS4; WT1-Related Disorders
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Diffuse mesangial sclerosis (111406002)
 
Gene: WT1
Cytogenetic location: 11p13
OMIM: 256370

Definition

Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can also show focal segmental glomerulosclerosis (FSGS). Both of these terms refer to pathologic findings and may be associated with the same clinical phenotype, namely nephrotic syndrome (review by Schumacher et al., 1998). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]

Clinical features

Nephroblastoma (Wilms tumor)
MedGen UID:
505324
Concept ID:
CN002424
Finding
The presence of a `nephroblastoma` (MPATH:261), which is a neoplasm of the `kidney` (FMA:7203) that primarily affects children.
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Nephrotic syndrome
MedGen UID:
504341
Concept ID:
CN000100
Finding
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.
Nephroblastoma (Wilms tumor)
MedGen UID:
505324
Concept ID:
CN002424
Finding
The presence of a `nephroblastoma` (MPATH:261), which is a neoplasm of the `kidney` (FMA:7203) that primarily affects children.

Recent clinical studies

Etiology

Mehrazma M, Otukesh H, Madani A, Hooman N, Bedayat A, Dianati Maleki N, Ehteshami Afshar A, Hoseini R
Iran J Kidney Dis 2012 Nov;6(6):426-31. PMID: 23146979
Fencl F, Malina M, Stará V, Zieg J, Mixová D, Seeman T, Bláhová K
Eur J Pediatr 2012 Jan;171(1):121-4. Epub 2011 May 26 doi: 10.1007/s00431-011-1497-3. [Epub ahead of print] PMID: 21614510
Nso Roca AP, Peña Carrión A, Benito Gutiérrez M, García Meseguer C, García Pose A, Navarro M
Pediatr Nephrol 2009 May;24(5):1013-9. Epub 2008 Dec 10 doi: 10.1007/s00467-008-1063-z. [Epub ahead of print] PMID: 19066977
Yang Y, Jeanpierre C, Dressler GR, Lacoste M, Niaudet P, Gubler MC
Am J Pathol 1999 Jan;154(1):181-92. doi: 10.1016/S0002-9440(10)65264-9. PMID: 9916932Free PMC Article
Gagnadoux MF, Habib R
Pediatr Nephrol 1992 May;6(3):266. PMID: 1319726

Diagnosis

Baskin E, Selda Bayrakci U, Alehan F, Ozdemir H, Oner A, Horvath R, Vega-Warner V, Hildebrandt F, Ozaltin F
Pediatr Nephrol 2011 Jul;26(7):1157-61. Epub 2011 Mar 2 doi: 10.1007/s00467-011-1814-0. [Epub ahead of print] PMID: 21365190Free PMC Article
Nso Roca AP, Peña Carrión A, Benito Gutiérrez M, García Meseguer C, García Pose A, Navarro M
Pediatr Nephrol 2009 May;24(5):1013-9. Epub 2008 Dec 10 doi: 10.1007/s00467-008-1063-z. [Epub ahead of print] PMID: 19066977
Besbas N, Bayrakci US, Kale G, Cengiz AB, Akcoren Z, Akinci D, Kilic I, Bakkaloglu A
Pediatr Nephrol 2006 May;21(5):740-2. Epub 2006 Mar 8 doi: 10.1007/s00467-006-0051-4. [Epub ahead of print] PMID: 16523262
Chang JW, Yang LY
Acta Paediatr Taiwan 2003 Sep-Oct;44(5):300-2. PMID: 14964988
Ozen S, Tinaztepe K
Nephron 1996;72(2):288-91. PMID: 8684541

Therapy

Mehrazma M, Otukesh H, Madani A, Hooman N, Bedayat A, Dianati Maleki N, Ehteshami Afshar A, Hoseini R
Iran J Kidney Dis 2012 Nov;6(6):426-31. PMID: 23146979
Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ
Pediatr Nephrol 2012 May;27(5):865-8. Epub 2012 Jan 8 doi: 10.1007/s00467-011-2088-2. [Epub ahead of print] PMID: 22228401
Wasilewska AM, Kuroczycka-Saniutycz E, Zoch-Zwierz W
Eur J Pediatr 2011 Mar;170(3):389-91. Epub 2010 Sep 17 doi: 10.1007/s00431-010-1278-4. [Epub ahead of print] PMID: 20848129Free PMC Article
Besbas N, Bayrakci US, Kale G, Cengiz AB, Akcoren Z, Akinci D, Kilic I, Bakkaloglu A
Pediatr Nephrol 2006 May;21(5):740-2. Epub 2006 Mar 8 doi: 10.1007/s00467-006-0051-4. [Epub ahead of print] PMID: 16523262
Yang Y, Zhang SY, Sich M, Béziau A, van den Heuvel LP, Gubler MC
Pediatr Nephrol 2001 May;16(5):429-38. PMID: 11405118

Prognosis

Nso Roca AP, Peña Carrión A, Benito Gutiérrez M, García Meseguer C, García Pose A, Navarro M
Pediatr Nephrol 2009 May;24(5):1013-9. Epub 2008 Dec 10 doi: 10.1007/s00467-008-1063-z. [Epub ahead of print] PMID: 19066977
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F
Nephrol Dial Transplant 2008 Apr;23(4):1291-7. Epub 2007 Dec 8 doi: 10.1093/ndt/gfm759. [Epub ahead of print] PMID: 18065803
Hahn H, Cho YM, Park YS, You HW, Cheong HI
J Korean Med Sci 2006 Feb;21(1):160-4. PMID: 16479084Free PMC Article
Mildenberger E, Lennert T, Kunze J, Jandeck C, Waldherr R, Versmold H
Acta Paediatr 1998 Dec;87(12):1301-3. PMID: 9894834
Joh K, Kanetsuna Y, Ishikawa Y, Aizawa S, Naito I, Sado Y
Virchows Arch 1997 Jun;430(6):489-94. PMID: 9230914

Clinical prediction guides

Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F
Nephrol Dial Transplant 2008 Apr;23(4):1291-7. Epub 2007 Dec 8 doi: 10.1093/ndt/gfm759. [Epub ahead of print] PMID: 18065803
Besbas N, Bayrakci US, Kale G, Cengiz AB, Akcoren Z, Akinci D, Kilic I, Bakkaloglu A
Pediatr Nephrol 2006 May;21(5):740-2. Epub 2006 Mar 8 doi: 10.1007/s00467-006-0051-4. [Epub ahead of print] PMID: 16523262
Yang Y, Zhang SY, Sich M, Béziau A, van den Heuvel LP, Gubler MC
Pediatr Nephrol 2001 May;16(5):429-38. PMID: 11405118
Yang Y, Jeanpierre C, Dressler GR, Lacoste M, Niaudet P, Gubler MC
Am J Pathol 1999 Jan;154(1):181-92. doi: 10.1016/S0002-9440(10)65264-9. PMID: 9916932Free PMC Article
Mildenberger E, Lennert T, Kunze J, Jandeck C, Waldherr R, Versmold H
Acta Paediatr 1998 Dec;87(12):1301-3. PMID: 9894834

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