When my initial test was requested from Ambry by my Doctor he did not request the full panel with deletion testing and it came back as D508 only and and he said I was only a carrier but I persisted and was able to get a full panel (amplified) done and that is when they found the other mutation, and the diagnosis of CF (at age 57 and alas, my lung function down to 64% at that time, now down to an FEV1 of 27%). Getting the full test done took me 3 years to convince Doctor to push my Insurance Co. to approve it. He kept saying due to my age I must be just having "some" symtoms because I was a carrier (which I knew I was as I had already lost a child with CF). I really didn't want a diagnosis of CF but I knew in my hearts of hearts that I had it and I wanted all the medicines and treatments I could receive to slow down my further loss of lung function. My <u><b>Doctors</b></u>(new Doctor finally agreed to initial testing)would not listen to me for years...Just kept saying it was a childhood illness and I had not started to have problems till my early 20's therefore it had to be something else. Push for amplified testing but consider yourself lucky that you child's doctor is being proactive with his treatment and not just dismissing the sweat test results and totally relying on blood test...better to be proactive earlier rather than later.
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OH MY!
- Thread starter emilyspeanut
- Start date
When my initial test was requested from Ambry by my Doctor he did not request the full panel with deletion testing and it came back as D508 only and and he said I was only a carrier but I persisted and was able to get a full panel (amplified) done and that is when they found the other mutation, and the diagnosis of CF (at age 57 and alas, my lung function down to 64% at that time, now down to an FEV1 of 27%). Getting the full test done took me 3 years to convince Doctor to push my Insurance Co. to approve it. He kept saying due to my age I must be just having "some" symtoms because I was a carrier (which I knew I was as I had already lost a child with CF). I really didn't want a diagnosis of CF but I knew in my hearts of hearts that I had it and I wanted all the medicines and treatments I could receive to slow down my further loss of lung function. My <u><b>Doctors</b></u>(new Doctor finally agreed to initial testing)would not listen to me for years...Just kept saying it was a childhood illness and I had not started to have problems till my early 20's therefore it had to be something else. Push for amplified testing but consider yourself lucky that you child's doctor is being proactive with his treatment and not just dismissing the sweat test results and totally relying on blood test...better to be proactive earlier rather than later.
When my initial test was requested from Ambry by my Doctor he did not request the full panel with deletion testing and it came back as D508 only and and he said I was only a carrier but I persisted and was able to get a full panel (amplified) done and that is when they found the other mutation, and the diagnosis of CF (at age 57 and alas, my lung function down to 64% at that time, now down to an FEV1 of 27%). Getting the full test done took me 3 years to convince Doctor to push my Insurance Co. to approve it. He kept saying due to my age I must be just having "some" symtoms because I was a carrier (which I knew I was as I had already lost a child with CF). I really didn't want a diagnosis of CF but I knew in my hearts of hearts that I had it and I wanted all the medicines and treatments I could receive to slow down my further loss of lung function. My <u><b>Doctors</b></u>(new Doctor finally agreed to initial testing)would not listen to me for years...Just kept saying it was a childhood illness and I had not started to have problems till my early 20's therefore it had to be something else. Push for amplified testing but consider yourself lucky that you child's doctor is being proactive with his treatment and not just dismissing the sweat test results and totally relying on blood test...better to be proactive earlier rather than later.
When my initial test was requested from Ambry by my Doctor he did not request the full panel with deletion testing and it came back as D508 only and and he said I was only a carrier but I persisted and was able to get a full panel (amplified) done and that is when they found the other mutation, and the diagnosis of CF (at age 57 and alas, my lung function down to 64% at that time, now down to an FEV1 of 27%). Getting the full test done took me 3 years to convince Doctor to push my Insurance Co. to approve it. He kept saying due to my age I must be just having "some" symtoms because I was a carrier (which I knew I was as I had already lost a child with CF). I really didn't want a diagnosis of CF but I knew in my hearts of hearts that I had it and I wanted all the medicines and treatments I could receive to slow down my further loss of lung function. My <u><b>Doctors</b></u>(new Doctor finally agreed to initial testing)would not listen to me for years...Just kept saying it was a childhood illness and I had not started to have problems till my early 20's therefore it had to be something else. Push for amplified testing but consider yourself lucky that you child's doctor is being proactive with his treatment and not just dismissing the sweat test results and totally relying on blood test...better to be proactive earlier rather than later.
When my initial test was requested from Ambry by my Doctor he did not request the full panel with deletion testing and it came back as D508 only and and he said I was only a carrier but I persisted and was able to get a full panel (amplified) done and that is when they found the other mutation, and the diagnosis of CF (at age 57 and alas, my lung function down to 64% at that time, now down to an FEV1 of 27%). Getting the full test done took me 3 years to convince Doctor to push my Insurance Co. to approve it. He kept saying due to my age I must be just having "some" symtoms because I was a carrier (which I knew I was as I had already lost a child with CF). I really didn't want a diagnosis of CF but I knew in my hearts of hearts that I had it and I wanted all the medicines and treatments I could receive to slow down my further loss of lung function. My <u><b>Doctors</b></u>(new Doctor finally agreed to initial testing)would not listen to me for years...Just kept saying it was a childhood illness and I had not started to have problems till my early 20's therefore it had to be something else. Push for amplified testing but consider yourself lucky that you child's doctor is being proactive with his treatment and not just dismissing the sweat test results and totally relying on blood test...better to be proactive earlier rather than later.
emilyspeanut
New member
Thank you! We have decided to take my son to another CF specialist and start with her for the time being. We have had so many issues to date and I am tired of fighting against what is right. The doctors do not know my son I do! I wish they would listen to that.
I appreciate everyones input it has helped alot!
I appreciate everyones input it has helped alot!
emilyspeanut
New member
Thank you! We have decided to take my son to another CF specialist and start with her for the time being. We have had so many issues to date and I am tired of fighting against what is right. The doctors do not know my son I do! I wish they would listen to that.
I appreciate everyones input it has helped alot!
I appreciate everyones input it has helped alot!
emilyspeanut
New member
Thank you! We have decided to take my son to another CF specialist and start with her for the time being. We have had so many issues to date and I am tired of fighting against what is right. The doctors do not know my son I do! I wish they would listen to that.
I appreciate everyones input it has helped alot!
I appreciate everyones input it has helped alot!
emilyspeanut
New member
Thank you! We have decided to take my son to another CF specialist and start with her for the time being. We have had so many issues to date and I am tired of fighting against what is right. The doctors do not know my son I do! I wish they would listen to that.
I appreciate everyones input it has helped alot!
I appreciate everyones input it has helped alot!
emilyspeanut
New member
Thank you! We have decided to take my son to another CF specialist and start with her for the time being. We have had so many issues to date and I am tired of fighting against what is right. The doctors do not know my son I do! I wish they would listen to that.
<br />I appreciate everyones input it has helped alot!
<br />I appreciate everyones input it has helped alot!
LisaGreene
New member
Here is something that might be of interest to you about CFTR Related Metabolic Syndrome. Not sure if it applies to your case but worth looking into. Good luck- Lisa
<b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
<b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
LisaGreene
New member
Here is something that might be of interest to you about CFTR Related Metabolic Syndrome. Not sure if it applies to your case but worth looking into. Good luck- Lisa
<b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
<b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
LisaGreene
New member
Here is something that might be of interest to you about CFTR Related Metabolic Syndrome. Not sure if it applies to your case but worth looking into. Good luck- Lisa
<b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
<b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
LisaGreene
New member
Here is something that might be of interest to you about CFTR Related Metabolic Syndrome. Not sure if it applies to your case but worth looking into. Good luck- Lisa
<b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
<b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
LisaGreene
New member
Here is something that might be of interest to you about CFTR Related Metabolic Syndrome. Not sure if it applies to your case but worth looking into. Good luck- Lisa
<br />
<br /><b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
<br />
<br />Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
<br />
<br />Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
<br />
<br />
<br />
<br /><b>Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond</b>
<br />
<br />Drucy Borowitz, MDa, Richard B. Parad, MD, MPHb, Jack K. Sharp, MD, CMa, Kathryn A. Sabadosa, MPHc, Karen A. Robinson, PhDd, Michael J. Rock, MDe, Philip M. Farrell, MD, PhDe, Marci K. Sontag, PhDf, Margaret Rosenfeld, MD, MPHg, Stephanie D. Davis, MDh, Bruce C. Marshall, MDi, Frank J. Accurso, MDf
<br />
<br />Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history of CRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.
<br />
<br />