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Abbreviation : CNS
Long Form : congenital nephrotic syndrome
No. Year Title Co-occurring Abbreviation
2020 A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan. INS
2020 A cross-sectional study exploring disease characteristics and phylogenetic nature of human cytomegalovirus among infected neonates with congenital nephrotic syndrome. ANOVA, CAI, ENC, HCMV
2020 Congenital nephrotic syndrome as a complication of whooping cough: a case report. ---
2020 Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. IQR
2020 Congenital Nephrotic Syndrome With a Novel Presentation in Saudi Arabia. ---
2020 Congenital nephrotic syndrome: is early aggressive treatment needed? Yes. ---
2020 Congenital nephrotic syndrome: is early aggressive treatment needed?-No. ESKD
2020 Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group. ERKNet, ESPN
2020 Thromboprophylaxis in congenital nephrotic syndrome: 15-year experience from a national cohort. VTE
10  2019 Analysis of 14 Patients With Congenital Nephrotic Syndrome. CMV
11  2019 Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation. ---
12  2019 Diagnostic and Management Challenges in Congenital Nephrotic Syndrome. ---
13  2019 Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. MAGI2
14  2019 Early or Late Transplantation in Congenital Nephrotic Syndrome: Which is Effective for Optimal Growth? CKD, GFR, SDS
15  2019 Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence? ---
16  2019 Infants with congenital nephrotic syndrome have comparable outcomes to infants with other renal diseases. CKD, HD, PD
17  2019 Management of children with congenital nephrotic syndrome: challenging treatment paradigms. ---
18  2019 The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic? ---
19  2019 Treatment and outcome of congenital nephrotic syndrome. ESKD
20  2018 Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling. ---
21  2018 Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. PLCE1, NPHS3, WT1
22  2018 Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. ---
23  2018 Skeletal impairment in Pierson syndrome: Is there a role for lamininbeta2 in bone physiology? ---
24  2017 Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. S1P
25  2017 LAMB2 mutation with different phenotypes in China
. ---
26  2017 MAGI2 Mutations Cause Congenital Nephrotic Syndrome. MAGI-2, SRNS
27  2017 Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. ---
28  2017 Vomiting in an infant with congenital nephrotic syndrome: Questions. HPS
29  2016 Congenital Nephrotic Syndrome - Finish Type. ---
30  2016 NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. ---
31  2016 Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. CsA, SRNS
32  2016 Recurrence of nephrotic syndrome following kidney transplantation in a child with congenital nephrotic syndrome. ---
33  2016 Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome. WT1
34  2016 Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. ---
35  2016 Sonographic Diagnosis in a Rare Aetiology of Neonatal Scrotal Swellings: A Case Report of Congenital Nephrotic Syndrome. ---
36  2016 The etiology of congenital nephrotic syndrome: current status and challenges. LAMB2
37  2016 Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry. BMI, CAKUT, eGFR, RRT, SDS
38  2015 Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation. CNF
39  2015 Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. INS
40  2015 Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology. FSGS
41  2015 Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. ---
42  2015 Oedema in kwashiorkor is caused by hypoalbuminaemia. ---
43  2015 Response to childhood immunizations in congenital nephrotic syndrome. ---
44  2015 Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency. CMV, MRI, SBIs, SCID, TBC, ZAP70, ZAP70
45  2014 Adrenal insufficiency in association with congenital nephrotic syndrome: a case report. ---
46  2014 Nephrotic and nephritic syndrome in the newborn. ---
47  2014 Thrombotic complications of neonates and children with congenital nephrotic syndrome. AT
48  2013 A novel mutation of laminin beta-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. DMS, LAMB2
49  2013 Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. ESRD
50  2012 Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome. DDS
51  2012 Histopathologic and clinical findings of congenital nephrotic syndrome in Iranian children: a study of two centers. ---
52  2012 Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. ---
53  2012 Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome. ---
54  2012 Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type. CNI, RTX
55  2012 SIRPalpha interacts with nephrin at the podocyte slit diaphragm. SD, SIRPalpha
56  2011 Severe immune haemolytic anaemia due to ceftriaxone in a patient with congenital nephrotic syndrome. ---
57  2011 Update on congenital nephrotic syndromes and the contribution of US. NS
58  2011 [Congenital syphillis presenting congenital nephrotic syndrome in two children and related data review]. RPR, TPHA
59  2010 Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. ---
60  2010 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. CsA, SRNS
61  2010 Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). SRNS
62  2010 The first Chinese Pierson syndrome with novel mutations in LAMB2. ---
63  2009 Congenital nephrotic syndrome. ---
64  2009 NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. ---
65  2008 A milder variant of Pierson syndrome. ---
66  2008 Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. CNF, ESRD
67  2008 Variable phenotype of Pierson syndrome. GBM
68  2007 Congenital nephrotic syndrome-a treatable cause. ---
69  2006 Add-on therapy with angiotensin II receptor 1 blocker in children with chronic kidney disease already treated with angiotensin-converting enzyme inhibitors. ACEI, AT1B, GFR, RAS
70  2006 Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. CNF
71  2006 [LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. ---
72  2005 Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. PCR
73  2005 Clinical course of congenital nephrotic syndrome and Denys-Drash syndrome in Japan. DDS
74  2005 Congenital Nephrotic Syndrome with adrenal calcification and cardiac malformation. CHD
75  2005 [NPHS1 mutations in a Chinese family with congenital nephrotic syndrome]. ESRD, PCR, SNPs
76  2004 A case of atypical congenital nephrotic syndrome. DMS
77  2004 Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. DMS
78  2004 Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. GBM
79  2004 No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. SRNS
80  2004 [Congenital nephrotic syndrome]. CNF
81  2003 Congenital nephrotic syndrome. CNF
82  2003 Congenital nephrotic syndrome: report of an infant with diffuse mesangial sclerosis. CNF, DMS
83  2003 Management of congenital nephrotic syndrome. ---
84  2003 Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome. CMV
85  2002 Acquired cystic kidney disease following long-term peritoneal dialysis for congenital nephrotic syndrome. ACKD
86  2002 Rapidly progressive, pauci-immune diffuse crescentic glomerulonephritis in an infant. CrGN
87  2002 [Congenital nephrotic syndrome]. CNF
88  2001 Congenital nephrotic syndromes. ---
89  2000 Cardiac malformations associated with the congenital nephrotic syndrome. ---
90  2000 Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. ---
91  1998 Renal transplantation in children with congenital nephrotic syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS). NAPRTCS
92  1998 Urologic management of congenital nephrotic syndrome of the Finnish type. ---
93  1996 Congenital nephrotic syndrome. CNF
94  1995 Congenital nephrotic syndrome with clinical hypothyroidism. ---
95  1995 Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study. FSGS, HUS, NAPRTCS
96  1994 Clinical and pathologic findings in 2 siblings with congenital nephrotic syndrome. ---
97  1994 Glycosaminoglycans in urine and amniotic fluid in congenital nephrotic syndrome of the Finnish type. CNF, CS, GAG, GBM, HS, HSPG
98  1992 Congenital nephrotic syndrome: preemptive bilateral nephrectomy and dialysis before renal transplantation. ---
99  1992 The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type. GAG, GBM, HS, HSPG, TBM
100  1991 Focal segmental glomerulosclerosis associated with infantile spasms in five mentally retarded children: a morphological analysis on mesangiolysis. FSGS, INS