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Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

Background ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early... Full description

Journal Title: Pediatric nephrology (Berlin West), 2017, Vol.32 (8), p.1369-1375
Main Author: Atmaca, Mustafa
Other Authors: Gulhan, Bora , Korkmaz, Emine , Inozu, Mihriban , Soylemezoglu, Oguz , Candan, Cengiz , Bayazıt, Aysun Karabay , Elmacı, Ahmet Midhat , Parmaksiz, Gonul , Duzova, Ali , Besbas, Nesrin , Topaloglu, Rezan , Ozaltin, Fatih
Format: Electronic Article Electronic Article
Language: English
Subjects:
Age
Publisher: Berlin/Heidelberg: Springer Berlin Heidelberg
ID: ISSN: 0931-041X
Link: https://www.ncbi.nlm.nih.gov/pubmed/28337616
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title: Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment
format: Article
creator:
  • Atmaca, Mustafa
  • Gulhan, Bora
  • Korkmaz, Emine
  • Inozu, Mihriban
  • Soylemezoglu, Oguz
  • Candan, Cengiz
  • Bayazıt, Aysun Karabay
  • Elmacı, Ahmet Midhat
  • Parmaksiz, Gonul
  • Duzova, Ali
  • Besbas, Nesrin
  • Topaloglu, Rezan
  • Ozaltin, Fatih
subjects:
  • ADCK4 mutation
  • Adolescent
  • Adolescents
  • Adult
  • Age
  • Albuminuria - diagnosis
  • Albuminuria - drug therapy
  • Albuminuria - genetics
  • Albuminuria - urine
  • Child
  • Child, Preschool
  • Chronic kidney disease
  • CoQ10 supplementation
  • Diagnosis
  • Diagnosis, Differential
  • Differential diagnosis
  • DNA Mutational Analysis
  • Drug Resistance
  • End-stage renal disease
  • Epidermal growth factor receptors
  • Etiology
  • Female
  • Follow-Up Studies
  • Gene mutations
  • Genetic aspects
  • Genetic screening
  • Genetic Testing
  • Glomerular Filtration Rate
  • Glomerulonephritis
  • Glucocorticoids - pharmacology
  • Glucocorticoids - therapeutic use
  • Humans
  • Kidney - drug effects
  • Kidney - pathology
  • Kidney diseases
  • Kidney Failure, Chronic - diagnosis
  • Kidney Failure, Chronic - etiology
  • Kidney Failure, Chronic - genetics
  • Kidney transplantation
  • Male
  • Medicine
  • Medicine & Public Health
  • Mutation
  • Nephrology
  • Nephrotic syndrome
  • Nephrotic Syndrome - diagnosis
  • Nephrotic Syndrome - drug therapy
  • Nephrotic Syndrome - genetics
  • Original Article
  • Patients
  • Pediatrics
  • Physiological aspects
  • Protein Kinases - genetics
  • Proteinuria
  • Renal failure
  • Risk factors
  • Supplementation
  • Time Factors
  • Treatment Outcome
  • Turkey
  • Ubiquinone - analogs & derivatives
  • Ubiquinone - therapeutic use
  • Urology
  • Vitamins - therapeutic use
  • Young Adult
ispartof: Pediatric nephrology (Berlin, West), 2017, Vol.32 (8), p.1369-1375
description: Background ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration. Methods A total of 146 index patients aged 10–18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation. Results Twenty-eight individuals with bi-allelic mutation from 11 families were identified. Median age at diagnosis was 12.4 (interquartile range [IQR] 8.04–19.7) years. Upon first admission, all patients had albuminuria and 18 had CKD (6 ESKD). Eight were diagnosed either through the screening of family members following index case identification or during genetic investigation of proteinuria in an individual with a history of a transplanted sibling. Median age of these 8 patients was 21.5 (range 4.4–39) years. CoQ10 supplementation was administered following genetic diagnosis. Median estimated glomerular filtration rate (eGFR) just before CoQ10 administration was 140 (IQR 117–155) ml/min/1.73m 2 , proteinuria was 1,008 (IQR 281–1,567) mg/m 2 /day. After a median follow-up of 11.5 (range 4–21) months following CoQ10 administration, proteinuria was significantly decreased (median 363 [IQR 175–561] mg/m 2 /day, P =0.025), whereas eGFR was preserved (median 137 [IQR 113–158] ml/min/1.73m 2 , P =0.61). Conclusions ADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective.
language: eng
source:
identifier: ISSN: 0931-041X
fulltext: no_fulltext
issn:
  • 0931-041X
  • 1432-198X
url: Link


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titleFollow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment
creatorAtmaca, Mustafa ; Gulhan, Bora ; Korkmaz, Emine ; Inozu, Mihriban ; Soylemezoglu, Oguz ; Candan, Cengiz ; Bayazıt, Aysun Karabay ; Elmacı, Ahmet Midhat ; Parmaksiz, Gonul ; Duzova, Ali ; Besbas, Nesrin ; Topaloglu, Rezan ; Ozaltin, Fatih
creatorcontribAtmaca, Mustafa ; Gulhan, Bora ; Korkmaz, Emine ; Inozu, Mihriban ; Soylemezoglu, Oguz ; Candan, Cengiz ; Bayazıt, Aysun Karabay ; Elmacı, Ahmet Midhat ; Parmaksiz, Gonul ; Duzova, Ali ; Besbas, Nesrin ; Topaloglu, Rezan ; Ozaltin, Fatih
descriptionBackground ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration. Methods A total of 146 index patients aged 10–18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation. Results Twenty-eight individuals with bi-allelic mutation from 11 families were identified. Median age at diagnosis was 12.4 (interquartile range [IQR] 8.04–19.7) years. Upon first admission, all patients had albuminuria and 18 had CKD (6 ESKD). Eight were diagnosed either through the screening of family members following index case identification or during genetic investigation of proteinuria in an individual with a history of a transplanted sibling. Median age of these 8 patients was 21.5 (range 4.4–39) years. CoQ10 supplementation was administered following genetic diagnosis. Median estimated glomerular filtration rate (eGFR) just before CoQ10 administration was 140 (IQR 117–155) ml/min/1.73m 2 , proteinuria was 1,008 (IQR 281–1,567) mg/m 2 /day. After a median follow-up of 11.5 (range 4–21) months following CoQ10 administration, proteinuria was significantly decreased (median 363 [IQR 175–561] mg/m 2 /day, P =0.025), whereas eGFR was preserved (median 137 [IQR 113–158] ml/min/1.73m 2 , P =0.61). Conclusions ADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective.
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languageeng
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subjectADCK4 mutation ; Adolescent ; Adolescents ; Adult ; Age ; Albuminuria - diagnosis ; Albuminuria - drug therapy ; Albuminuria - genetics ; Albuminuria - urine ; Child ; Child, Preschool ; Chronic kidney disease ; CoQ10 supplementation ; Diagnosis ; Diagnosis, Differential ; Differential diagnosis ; DNA Mutational Analysis ; Drug Resistance ; End-stage renal disease ; Epidermal growth factor receptors ; Etiology ; Female ; Follow-Up Studies ; Gene mutations ; Genetic aspects ; Genetic screening ; Genetic Testing ; Glomerular Filtration Rate ; Glomerulonephritis ; Glucocorticoids - pharmacology ; Glucocorticoids - therapeutic use ; Humans ; Kidney - drug effects ; Kidney - pathology ; Kidney diseases ; Kidney Failure, Chronic - diagnosis ; Kidney Failure, Chronic - etiology ; Kidney Failure, Chronic - genetics ; Kidney transplantation ; Male ; Medicine ; Medicine & Public Health ; Mutation ; Nephrology ; Nephrotic syndrome ; Nephrotic Syndrome - diagnosis ; Nephrotic Syndrome - drug therapy ; Nephrotic Syndrome - genetics ; Original Article ; Patients ; Pediatrics ; Physiological aspects ; Protein Kinases - genetics ; Proteinuria ; Renal failure ; Risk factors ; Supplementation ; Time Factors ; Treatment Outcome ; Turkey ; Ubiquinone - analogs & derivatives ; Ubiquinone - therapeutic use ; Urology ; Vitamins - therapeutic use ; Young Adult
ispartofPediatric nephrology (Berlin, West), 2017, Vol.32 (8), p.1369-1375
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0Atmaca, Mustafa
1Gulhan, Bora
2Korkmaz, Emine
3Inozu, Mihriban
4Soylemezoglu, Oguz
5Candan, Cengiz
6Bayazıt, Aysun Karabay
7Elmacı, Ahmet Midhat
8Parmaksiz, Gonul
9Duzova, Ali
10Besbas, Nesrin
11Topaloglu, Rezan
12Ozaltin, Fatih
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0Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment
1Pediatric nephrology (Berlin, West)
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0Pediatr Nephrol
1Pediatr Nephrol
descriptionBackground ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration. Methods A total of 146 index patients aged 10–18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation. Results Twenty-eight individuals with bi-allelic mutation from 11 families were identified. Median age at diagnosis was 12.4 (interquartile range [IQR] 8.04–19.7) years. Upon first admission, all patients had albuminuria and 18 had CKD (6 ESKD). Eight were diagnosed either through the screening of family members following index case identification or during genetic investigation of proteinuria in an individual with a history of a transplanted sibling. Median age of these 8 patients was 21.5 (range 4.4–39) years. CoQ10 supplementation was administered following genetic diagnosis. Median estimated glomerular filtration rate (eGFR) just before CoQ10 administration was 140 (IQR 117–155) ml/min/1.73m 2 , proteinuria was 1,008 (IQR 281–1,567) mg/m 2 /day. After a median follow-up of 11.5 (range 4–21) months following CoQ10 administration, proteinuria was significantly decreased (median 363 [IQR 175–561] mg/m 2 /day, P =0.025), whereas eGFR was preserved (median 137 [IQR 113–158] ml/min/1.73m 2 , P =0.61). Conclusions ADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective.
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0ADCK4 mutation
1Adolescent
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5Albuminuria - diagnosis
6Albuminuria - drug therapy
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12CoQ10 supplementation
13Diagnosis
14Diagnosis, Differential
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16DNA Mutational Analysis
17Drug Resistance
18End-stage renal disease
19Epidermal growth factor receptors
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22Follow-Up Studies
23Gene mutations
24Genetic aspects
25Genetic screening
26Genetic Testing
27Glomerular Filtration Rate
28Glomerulonephritis
29Glucocorticoids - pharmacology
30Glucocorticoids - therapeutic use
31Humans
32Kidney - drug effects
33Kidney - pathology
34Kidney diseases
35Kidney Failure, Chronic - diagnosis
36Kidney Failure, Chronic - etiology
37Kidney Failure, Chronic - genetics
38Kidney transplantation
39Male
40Medicine
41Medicine & Public Health
42Mutation
43Nephrology
44Nephrotic syndrome
45Nephrotic Syndrome - diagnosis
46Nephrotic Syndrome - drug therapy
47Nephrotic Syndrome - genetics
48Original Article
49Patients
50Pediatrics
51Physiological aspects
52Protein Kinases - genetics
53Proteinuria
54Renal failure
55Risk factors
56Supplementation
57Time Factors
58Treatment Outcome
59Turkey
60Ubiquinone - analogs & derivatives
61Ubiquinone - therapeutic use
62Urology
63Vitamins - therapeutic use
64Young Adult
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7Elmacı, Ahmet Midhat
8Parmaksiz, Gonul
9Duzova, Ali
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titleFollow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment
authorAtmaca, Mustafa ; Gulhan, Bora ; Korkmaz, Emine ; Inozu, Mihriban ; Soylemezoglu, Oguz ; Candan, Cengiz ; Bayazıt, Aysun Karabay ; Elmacı, Ahmet Midhat ; Parmaksiz, Gonul ; Duzova, Ali ; Besbas, Nesrin ; Topaloglu, Rezan ; Ozaltin, Fatih
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1Adolescent
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3Adult
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5Albuminuria - diagnosis
6Albuminuria - drug therapy
7Albuminuria - genetics
8Albuminuria - urine
9Child
10Child, Preschool
11Chronic kidney disease
12CoQ10 supplementation
13Diagnosis
14Diagnosis, Differential
15Differential diagnosis
16DNA Mutational Analysis
17Drug Resistance
18End-stage renal disease
19Epidermal growth factor receptors
20Etiology
21Female
22Follow-Up Studies
23Gene mutations
24Genetic aspects
25Genetic screening
26Genetic Testing
27Glomerular Filtration Rate
28Glomerulonephritis
29Glucocorticoids - pharmacology
30Glucocorticoids - therapeutic use
31Humans
32Kidney - drug effects
33Kidney - pathology
34Kidney diseases
35Kidney Failure, Chronic - diagnosis
36Kidney Failure, Chronic - etiology
37Kidney Failure, Chronic - genetics
38Kidney transplantation
39Male
40Medicine
41Medicine & Public Health
42Mutation
43Nephrology
44Nephrotic syndrome
45Nephrotic Syndrome - diagnosis
46Nephrotic Syndrome - drug therapy
47Nephrotic Syndrome - genetics
48Original Article
49Patients
50Pediatrics
51Physiological aspects
52Protein Kinases - genetics
53Proteinuria
54Renal failure
55Risk factors
56Supplementation
57Time Factors
58Treatment Outcome
59Turkey
60Ubiquinone - analogs & derivatives
61Ubiquinone - therapeutic use
62Urology
63Vitamins - therapeutic use
64Young Adult
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6Bayazıt, Aysun Karabay
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6Bayazıt, Aysun Karabay
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abstractBackground ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration. Methods A total of 146 index patients aged 10–18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation. Results Twenty-eight individuals with bi-allelic mutation from 11 families were identified. Median age at diagnosis was 12.4 (interquartile range [IQR] 8.04–19.7) years. Upon first admission, all patients had albuminuria and 18 had CKD (6 ESKD). Eight were diagnosed either through the screening of family members following index case identification or during genetic investigation of proteinuria in an individual with a history of a transplanted sibling. Median age of these 8 patients was 21.5 (range 4.4–39) years. CoQ10 supplementation was administered following genetic diagnosis. Median estimated glomerular filtration rate (eGFR) just before CoQ10 administration was 140 (IQR 117–155) ml/min/1.73m 2 , proteinuria was 1,008 (IQR 281–1,567) mg/m 2 /day. After a median follow-up of 11.5 (range 4–21) months following CoQ10 administration, proteinuria was significantly decreased (median 363 [IQR 175–561] mg/m 2 /day, P =0.025), whereas eGFR was preserved (median 137 [IQR 113–158] ml/min/1.73m 2 , P =0.61). Conclusions ADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective.
copBerlin/Heidelberg
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pmid28337616
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