Article Figures & Data
Figures
- Figure 1.
Age at first disease manifestation in children with and without an identified genetic cause of steroid-resistant nephrotic syndrome.
Tables
- Table 1.
Key characteristics at time of diagnosis and response to intensified immunosuppressive therapy stratified by age at disease onset
Age at Disease Onset No. of Patients (%) Genetic Cause Identified N (%) Nephrotic-Range Proteinuria (%) Hypertension (%) Serum Albumin (g/dl) eGFRa (ml/min per 1.73 m2) Response to IIT ESRD at Last Observation (%) Post-Tx Recurrence N/NTx (%) Partial Remission N/Ninfo (%) Complete Remission N/Ninfo (%) <3 mo 98 (6.3) 55 (66.3) 92.7 10.2 1.7 (0.9) 62 (41–80) 2/11 (18.2) 3/11 (27.3) 60.9 2/34 (5.9) 3–12 mo 106 (6.9) 31 (35.6) 89.7 17.0 2.1 (1.0) 89 (53–132) 3/33 (9.1) 16/33 (48.5) 37.8 0/21 (0.0) 1–5 yr 786 (50.9) 119 (21.8) 93.3 14.3 2.0 (0.9) 105 (78–147) 97/505 (19.2) 231/505 (45.7) 21.5 16/86 (18.6) 6–11 yr 350 (22.7) 40 (15.6) 88.1 16.6 2.6 (1.0) 105 (76–145) 49/208 (23.6) 73/208 (35.1) 27.2 11/36 (30.6) ≥12 yr 204 (13.2) 24 (16.1) 89.8 27.9 2.6 (1.0) 93 (64–129) 29/128 (22.7) 42/128 (32.8) 28.6 3/26 (11.5) Data are given as number (%), mean (SD), or median (interquartile range). IIT, immunosuppressive therapy; Ninfo, number of patients with reported information; Tx, transplant; NTx, number of patients who received a kidney transplant.
↵a Median (interquartile range)
- Table 2.
Key characteristics according to histopathologic diagnosis sorted by patient age at time of biopsy
Histopathologic Diagnosis No. of Patients N (%) Genetic cause N/Ninfo (%) At First Biopsy IIT Responsiveness ESRD at Last Observation (%) Agea (yr) Serum Albumin (g/dl) Hypertension (%) eGFRa (ml/min per 1.73 m2) Partial Remission N/Ninfo (%) Complete Remission N/Ninfo (%) CNS 8 (0.6) 3/7 (43.0) 0.2 (0.2–0.7) 1.4 (0.4) 0.0 56 (29–98) 0/1 (0.0) 0/1 (0.0) 57.1 DMS 39 (2.9) 22/35 (62.9) 1.3 (0.6–2.3) 2.0 (0.8) 26.3 59 (37–97) 0/10 (0.0) 1/10 (10.0) 72.2 MCN 283 (21.1) 24/195 (12.3) 4.2 (2.4–7.6) 2.5 (1.0) 15.8 108 (86–155) 41/202 (20.3) 103/202 (51.0) 12.9 MesPGN 166 (12.4) 23/123 (18.7) 4.4 (2.4–8.4) 2.4 (1.0) 15.1 118 (84–162) 26/101 (25.7) 41/101 (40.6) 18.9 FSGS 752 (56.0) 122/555 (22.0) 6.2 (3.0–11.0) 2.7 (1.0) 18.9 97 (68–142) 93/469 (19.8) 183/469 (39.0) 30.9 GGS 17 (1.3) 4/12 (33.3) 6.6 (3.4–9.1) 2.8 (0.8) 17.7 17 (10–85) 0/3 (0.0) 1/3 (33.3) 68.8 MN 11 (0.8) 0/11 (0.0) 7.0 (2.7–13.6) 2.4 (0.9) 27.3 116 (103–138) 3/10 (30.0) 5/10 (50.0) 9.1 MPGN 35 (2.6) 4/25 (16.0) 10.5 (5.8–11.9) 2.9 (0.8) 22.9 112 (61–148) 4/16 (25.0) 6/16 (37.5) 23.5 Other 31 (2.3) 9/27 (33.3) 8.8 (3.2–11.7) 2.7 (1.1) 6.7 45 (29–98) 4/16 (25.0) 6/16 (37.5) 24.1 Information on genetic disease, features at first biopsy, IIT responsiveness, and fraction of ESRD at last observations refers to diagnosis by initial biopsy. Data are given as number (%), mean (SD), or median (interquartile range). CNS, Finnish-type congenital nephrotic syndrome; DMS, diffuse mesangial sclerosis; MCN, minimal change nephropathy; MesPGN, mesangioproliferative GN; GGS, global glomerulosclerosis; MN, membranous nephropathy; MPGN, membranoproliferative GN; Ninfo, number of patients with reported information.
↵a Median (interquartile range).
Type of Extrarenal Abnormality N % Patients without reported extrarenal abnormalities 1368 82.7 Mental retardation 65 3.9 Anomalies of centralnervous system 42 2.5 Microcephaly 17 1.0 Visual impairment 32 1.9 Hearing disorder 25 1.5 Anomalies of peripheral nervous system 7 0.4 Myopathy 13 0.8 Cardiomyopathy 6 0.4 Urogenital abnormalities 33 2.0 Impaired sex differentiation 16 1.0 Short stature 84 5.1 Facial dysmorphism 37 2.2 Spondyloepiphyseal dysplasia 8 0.5 Polydactyly 5 0.3 Nail patella syndrome 2 0.1 Cardiac structural disorder 36 2.2 Malignant disorder 21 1.3 Hematologic disorders 7 0.4 Diabetes mellitus 7 0.4 Other endocrine abnormalities 23 1.4 Skin abnormalities 13 0.8 Abnormalities of the gastrointestinal tract 5 0.3 Autoimmune disorder 9 0.5 Connatal cytomegaly virus 9 0.5 Hepatitis B 6 0.4 Hepatitis C 10 0.6 Gene Patients Screened Patients with Causative Mutation Screened Positive (%) NPHS2 1088 138 12.7 WT1 902 48 5.3 NPHS1 208 41 19.7 SMARCAL1 68 12 17.6 PLCE1 75 10 13.3 PTPRO 45 6 13.3 LAMB2 84 5 6.0 INF2 112 4 3.6 COQ6 30 3 10.0 MYO1E 48 2 4.2 TRPC6 96 1 1.0 COQ2 56 1 1.8 LMX1B 27 1 3.7 ADCK4 27 1 3.7 PDSS2 56 0 0.0 ACTN4 59 0 0.0 CD2AP 56 0 0.0 All 1174 277 23.6 Medication Protocol No. of Patients No. of Periods Cotreated with RAS Antagonists (%) Cotreated with Oral Steroids (%) Treatment Duration (mo) Response to Therapy Partial Remission N/Ninfo (%) Complete Remission N/Ninfo (%) RAS antagonists only 623 950 — 63.3 5.2 (1.9–17.1) 109/531 (20.5) 141/531 (26.6) Oral steroids only 722 1119 — — 2.0 (1.4–4.7) 53/567 (9.3) 62/567 (10.9) Steroid pulses 541 1114 51.0 72.4 0.1 (0.1–0.9) 42/279 (15.1) 25/279 (9.0) CPH (oral or pulse) 273 336 39.0 92.0 2.5 (1.6–3.0) 11/131 (8.4) 22/131 (16.8) CNI 806 1210 70.7 89.5 8.3 (3.0–23.0) 153/707 (21.6) 311/707 (44.0) MMF 177 219 80.4 71.7 6.7 (3.0–14.9) 19/148 (12.8) 57/148 (38.5) CNI + MMF 137 167 81.4 76.0 7.7 (3.0–23.9) 26/119 (21.8) 57/119 (47.9) Rituximab 79 91 87.9 76.9 0.0 (0.0–4.6) 10/66 (15.2) 29/66 (43.9) Treatment duration is given as median and interquartile range. Renin angiotensin system (RAS) antagonists are angiotensin-converting enzyme inhibitor and/or angiotensin type 1 receptor blocker. CPH, cyclophosphamide; CNI, calcineurin inhibitor (ciclosporin A or tacrolimus); MMF, mycophenolate-mofetil.
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- Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome
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- Contributions of Rare Gene Variants to Familial and Sporadic FSGS
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- Evaluating Mendelian nephrotic syndrome genes for evidence of risk alleles or oligogenicity that explain heritability
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- Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
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- Recurrent FSGS Postkidney Transplant: Moving the Needle Forward
- Ethnic Differences in Incidence and Outcomes of Childhood Nephrotic Syndrome
- Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome
- ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS