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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Genetic forms of syndromic steroid-resistant nephrotic syndrome

Genetic forms of syndromic steroid-resistant nephrotic syndrome
Syndrome Gene Protein Function Transmission Age at onset of proteinuria Histology Associated features
Denys-Drash syndrome WT1 Wilms tumor protein Podocyte development AD 0 to 10 years DMS Male pseudohermaphroditism, Wilms tumor
Frasier syndrome WT1 Wilms tumor protein Podocyte development AD 1 to 30 years FSGS Male pseudohermaphroditism, gonadoblastoma
Pierson syndrome LAMB2 Laminin beta-2 Links GBM to podocyte cytoskeleton AR 0 to 6 years DMS Microcoria, abnormal lens
Schimke syndrome SMARCAL1 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A-like protein 1 Chromatin bundling and gene transcription AR 2 to 12 years FSGS Bone dysplasia, immune deficiency, ischemic cerebral lesions
Nail-patella syndrome LMX1B LIM homeodomain transcription factor 1, beta Podocyte and GBM development AD 10 to 70 years FSGS Hypoplastic nails and patellae, iliac horns
Charcot-Marie-Tooth disease INF2 Inverted formin 2 Actin regulation AD 10 to 45 years FSGS Neuropathy, deafness
Galloway-Mowat syndrome WDR73 WD40 repeat-containing protein Unknown AR 5 to 15 years FSGS Microcephaly, intellectual disability, hiatal hernia, optic atrophy
Mitochondrial respiratory-chain disease MTTL1 Mitochondrial tRNA leucine 1 Mitochondrial tRNA Maternal 5 to 50 years FSGS MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms), diabetes mellitus, deafness
COQ2 Polyprenyltransferase Coenzyme Q10 biosynthesis AR 0 to 2 years FSGS Encephalomyopathy, hypotonia, seizures, lactate acidosis
COQ6 Ubiquinone biosynthesis monooxygenase COQ6 Coenzyme Q10 biosynthesis AR 0 to 6 years FSGS Sensorineural deafness
PDSS2 Decaprenyl diphosphate synthase, subunit 2 Coenzyme Q10 biosynthesis AR 0 to 2 years FSGS Encephalomyopathy, hypotonia, seizures, lactate acidosis
AD: autosomal dominant; DMS: diffuse mesangial sclerosis; FSGS: focal segmental glomerulosclerosis; AR: autosomal recessive; GBM: glomerular basement membrane.
Graphic 107090 Version 2.0

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