ABCMdb

PMID: 21538969

Ren CL, Desai H, Platt M, Dixon M
Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome.
Pediatr Pulmonol. 2011 Apr 29. doi: 10.1002/ppul.21475., 2011-04-29 [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC7 p.Arg117His One patient with the F508del/R117H/7T genotype was reassigned the diagnosis of CF after he had a positive OP culture for Pa, and his follow up sweat Cl at 1 year of life was 73 mmol/L. Login to comment 57 ABCC7 p.Arg117His However, since the New York state panel includes all the CF causing mutations (Group A),1,5 a mutation identified on sequencing would not have affected the diagnosis of CRMS. Three CRMS patients had the F508del/R117H/ 7T genotype, which has been associated with a variable CF phenotype.6-8 Compared to CF infants, CRMS infants` mean fecal elastase values were normal, and none of the CRMS infants had pancreatic insufficiency. Login to comment 58 ABCC7 p.Arg117His However, since the New York state panel includes all the CF causing mutations (Group A),1,5 a mutation identified on sequencing would not have affected the diagnosis of CRMS. Three CRMS patients had the F508del/R117H/ 7T genotype, which has been associated with a variable CF phenotype.6-8 Compared to CF infants, CRMS infants` mean fecal elastase values were normal, and none of the CRMS infants had pancreatic insufficiency. Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ile148Thr ABCC7 p.Val520Phe ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr Infants in both groups received treatment with inhaled tobramycin if they had a positive Pa OP culture, and treatment in both groups was associated with eradication of TABLE 1-CFTR Gene Mutation Panel Used by New York CF NBS Program F508del I50e7del G542X G551D W1282X N1303K R553X 621þ1G>T R117H 1717-1G>A A455E R560T R1162X G85E R334W R347P 711þ1G>T 1898þ1G>A 2184delA 1078delT 3849þ10kbC>T 2789þ5G>A 3659delC I148T 3120þ1G>A 3876delA V520F S549R S549N 3849þ4 A-G 3905insT R347H Reflex testing for 5T polymorphism is performed if R117H is detected. Login to comment 61 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ile148Thr ABCC7 p.Val520Phe ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr Infants in both groups received treatment with inhaled tobramycin if they had a positive Pa OP culture, and treatment in both groups was associated with eradication of TABLE 1- CFTR Gene Mutation Panel Used by New York CF NBS Program F508del I50e7del G542X G551D W1282X N1303K R553X 621þ1G>T R117H 1717-1G>A A455E R560T R1162X G85E R334W R347P 711þ1G>T 1898þ1G>A 2184delA 1078delT 3849þ10kbC>T 2789þ5G>A 3659delC I148T 3120þ1G>A 3876delA V520F S549R S549N 3849þ4 A-G 3905insT R347H Reflex testing for 5T polymorphism is performed if R117H is detected. Login to comment 74 ABCC7 p.Arg117His This infant carried the F508del/R117H/ 7T genotype and had a Pa positive OP culture; his diagnosis was subsequently changed to CF. Login to comment 75 ABCC7 p.Arg117His This infant carried the F508del/R117H/ 7T genotype and had a Pa positive OP culture; his diagnosis was subsequently changed to CF. Login to comment 77 ABCC7 p.Arg117His However, one infant who carried the F508del/R117H/7T genotype subsequently had a Pa positive OP culture and elevated follow up sweat Cl level, leading to a change in diagnosis to CF. Login to comment 78 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Arg560Thr ABCC7 p.Tyr1032Cys TABLE 3- Clinical Features and Outcomes of the CRMS Infants Patient number Gender Race/ ethnicity Mean age at 1st sweat (weeks) Mean sweat chloride (range) CFTR gene mutations identified Follow up time (months) Fecal elastase (mcg/gm stool) History of Pa infection History of hospitalization 1 Male Caucasian 4 46 (38-54) F508del/R117H/7T 36 303 Yes No 2 Male Caucasian 5 40 (40-43) F508del/R117H/7T 60 500 Yes No 3 Female Caucasian 3 29 (27-31) F508del/R117H/7T 60 488 No No 4 Male Caucasian 3 34 (33-38) F508del/none 26 383 No No 5 Male Caucasian 3 45 (40-50) F508del/none 72 424 No No 6 Female Caucasian 3 35 (32-38) F508del/none 9 454 No No 7 Male Caucasian 3 41 (36-46) F508del/none 39 462 No No 8 Female Caucasian 5 50 (46-52) F508del/none 72 440 No Yes 9 Male Caucasian 4 43 (41-45) F508del/Y1032C 14 401 No No 10 Male Caucasian 3 52 (50-54) G542X/none 21 500 No No 11 Female Caucasian 8 34 (30-38) R560T/none 9 433 No No 12 Female Hispanic 6 36 (32-40) R334W/R117H/7T 24 500 Yes No Mean sweat chloride levels represent the mean of all tests performed in the neonatal period. Login to comment 79 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Arg560Thr ABCC7 p.Tyr1032Cys TABLE 3- Clinical Features and Outcomes of the CRMS Infants Patient number Gender Race/ ethnicity Mean age at 1st sweat (weeks) Mean sweat chloride (range) CFTR gene mutations identified Follow up time (months) Fecal elastase (mcg/gm stool) History of Pa infection History of hospitalization 1 Male Caucasian 4 46 (38-54) F508del/R117H/7T 36 303 Yes No 2 Male Caucasian 5 40 (40-43) F508del/R117H/7T 60 500 Yes No 3 Female Caucasian 3 29 (27-31) F508del/R117H/7T 60 488 No No 4 Male Caucasian 3 34 (33-38) F508del/none 26 383 No No 5 Male Caucasian 3 45 (40-50) F508del/none 72 424 No No 6 Female Caucasian 3 35 (32-38) F508del/none 9 454 No No 7 Male Caucasian 3 41 (36-46) F508del/none 39 462 No No 8 Female Caucasian 5 50 (46-52) F508del/none 72 440 No Yes 9 Male Caucasian 4 43 (41-45) F508del/Y1032C 14 401 No No 10 Male Caucasian 3 52 (50-54) G542X/none 21 500 No No 11 Female Caucasian 8 34 (30-38) R560T/none 9 433 No No 12 Female Hispanic 6 36 (32-40) R334W/R117H/7T 24 500 Yes No Mean sweat chloride levels represent the mean of all tests performed in the neonatal period. Login to comment 101 ABCC7 p.Arg117His Infants with the F508del/R117H/7T genotype represent a subgroup of CRMS, and the relationship between TABLE 5- Nutritional Outcomes in CF and CRMS Patients Age (years) Weight for Age Z score Height for age Z score 1 2 3 4 3 4 CF N 27 24 20 16 20 16 Mean (SD) À0.49 (1.02) À0.16 (0.97) 0.02 (1.06) 0.05 (1.116) À0.01 (0.94) À0.04 (0.94) CRMS N 12 9 6 4 6 4 Mean (SD) 0.41 (0.99) 0.88 (0.91) 1.07 (1.14) 0.76 (.74) 0.56 (0.53) 0.63 (0.63) Data represent the mean of all measurements obtained in a given year. Login to comment 102 ABCC7 p.Arg117His Infants with the F508del/R117H/7T genotype represent a subgroup of CRMS, and the relationship between TABLE 5- Nutritional Outcomes in CF and CRMS Patients Age (years) Weight for Age Z score Height for age Z score 1 2 3 4 3 4 CF N 27 24 20 16 20 16 Mean (SD) À0.49 (1.02) À0.16 (0.97) 0.02 (1.06) 0.05 (1.116) À0.01 (0.94) À0.04 (0.94) CRMS N 12 9 6 4 6 4 Mean (SD) 0.41 (0.99) 0.88 (0.91) 1.07 (1.14) 0.76 (.74) 0.56 (0.53) 0.63 (0.63) Data represent the mean of all measurements obtained in a given year. Login to comment