The Experts below are selected from a list of 84 Experts worldwide ranked by ideXlab platform
Vidar O. Edvardsson - One of the best experts on this subject based on the ideXlab platform.
-
Long-term renal outcomes of APRT deficiency presenting in childhood
Pediatric Nephrology, 2019Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M.sch. Agustsdottir, Olafur S. Indridason, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary Purine Metabolism Disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood. Methods The disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the Disorder before the age of 18 years, was studied. The effect of pharmacotherapy on renal manifestations and outcomes was thoroughly assessed. Results Fourteen children were placed on allopurinol, 100 (25–200) mg/day, at the age of 2.6 (0.6–16.5) years. Six of these patients had experienced kidney stone events and three had developed acute kidney injury (AKI) prior to allopurinol treatment. During 18.9 (1.7–31.5) years of pharmacotherapy, stones occurred in two patients and AKI in three. Six adult patients started allopurinol treatment, 200 (100–300) mg/day, at age 29.8 (20.5–42.4) years. Five of these patients had experienced 28 stone episodes and AKI had occurred in two. Stone recurrence occurred in four patients and AKI in two during 11.2 (4.2–19.6) years of allopurinol therapy. Lack of adherence and insufficient dosing contributed to stone recurrence and AKI during pharmacotherapy. At latest follow-up, estimated glomerular filtration rate (eGFR) was 114 (70–163) and 62 (10–103) mL/min/1.73 m^2 in those who initiated treatment as children and adults, respectively. All three patients with CKD stages 3–5 at the last follow-up were adults when pharmacotherapy was initiated. Conclusion Timely diagnosis and treatment of APRT deficiency decreases renal complications and preserves kidney function.
-
Long-term renal outcomes of APRT deficiency presenting in childhood
Pediatric nephrology (Berlin Germany), 2018Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M.sch. Agustsdottir, Olafur S. Indridason, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary Purine Metabolism Disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood.
-
kidney disease in adenine phosphoribosyltransferase deficiency
American Journal of Kidney Diseases, 2016Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Olafur S. Indridason, Inger Sch M Agustsdottir, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a Purine Metabolism Disorder causing kidney stones and chronic kidney disease (CKD). The course of nephrolithiasis and CKD has not been well characterized. The objective of this study was to examine long-term kidney outcomes in patients with APRT deficiency. Study Design An observational cohort study. Setting & Participants All patients enrolled in the APRT Deficiency Registry of the Rare Kidney Stone Consortium. Outcomes Kidney stones, acute kidney injury (AKI), stage of CKD, end-stage renal disease, estimated glomerular filtration rate (eGFR), and changes in eGFR. Measurements Serum creatinine and eGFR calculated using creatinine-based equations. Results Of 53 patients, 30 (57%) were females and median age at diagnosis was 37.0 (range, 0.6-67.9) years. Median duration of follow-up was 10.3 (range, 0.0-31.5) years. At diagnosis, kidney stones had developed in 29 (55%) patients and 20 (38%) had CKD stages 3 to 5, including 11 (21%) patients with stage 5. At latest follow-up, 33 (62%) patients had experienced kidney stones; 18 (34%), AKI; and 22 (42%), CKD stages 3 to 5. Of 14 (26%) patients with stage 5 CKD, 12 had initiated renal replacement therapy. Kidney stones recurred in 18 of 33 (55%) patients. The median eGFR slope was −0.38 (range, −21.99 to 1.42) mL/min/1.73m2 per year in patients receiving treatment with an xanthine dehydrogenase inhibitor and −5.74 (range, −75.8 to −0.10) mL/min/1.73m2 per year in those not treated prior to the development of stage 5 CKD (P=0.001). Limitations Use of observational registry data. Conclusions Progressive CKD and AKI episodes are major features of APRT deficiency, whereas nephrolithiasis is the most common presentation. Advanced CKD without a history of kidney stones is more prevalent than previously reported. Our data suggest that timely therapy may retard CKD progression.
Roua Azmeh - One of the best experts on this subject based on the ideXlab platform.
-
severe combined immunodeficiency a Purine Metabolism Disorder
Pediatric Medicine, 2018Co-Authors: Jasmine Alsukhon, Ahmed Elisa, Shibani Kanungo, Roua AzmehAbstract:Severe combined immunodeficiency (SCID) is a primary immune deficiency that is a pediatric emergency. Left untreated, patients will die prior to 2 years of age from overwhelming infection. There are many known causes of SCID, but this review focuses on adenosine deaminase (ADA) deficiency. ADA is a ubiquitous “housekeeping” enzyme, and its deficiency leads to buildup of toxic metabolites, which preferentially affects lymphocytes but also causes non-immune manifestations of disease. While previously diagnosed based on recurrent, severe, or unusual infection, SCID is now being diagnosed during its initial asymptomatic period thanks to recent implementation of T cell receptor excision circle (TREC) newborn screening, thus greatly improving survival of patients as treatment can occur before the onset of infection. To date, TREC screening has shown 100% sensitivity for SCID but also has brought to light other causes of T cell lymphopenia that were previously lesser known. ADA-deficient SCID can be treated through enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), or gene therapy, and advances continue to be made every day that improve cost-effectiveness and efficacy of these therapies and make them more widely available to patients.
-
Severe combined immunodeficiency—a Purine Metabolism Disorder
Pediatric Medicine, 2018Co-Authors: Jasmine Alsukhon, Ahmed Elisa, Shibani Kanungo, Roua AzmehAbstract:Severe combined immunodeficiency (SCID) is a primary immune deficiency that is a pediatric emergency. Left untreated, patients will die prior to 2 years of age from overwhelming infection. There are many known causes of SCID, but this review focuses on adenosine deaminase (ADA) deficiency. ADA is a ubiquitous “housekeeping” enzyme, and its deficiency leads to buildup of toxic metabolites, which preferentially affects lymphocytes but also causes non-immune manifestations of disease. While previously diagnosed based on recurrent, severe, or unusual infection, SCID is now being diagnosed during its initial asymptomatic period thanks to recent implementation of T cell receptor excision circle (TREC) newborn screening, thus greatly improving survival of patients as treatment can occur before the onset of infection. To date, TREC screening has shown 100% sensitivity for SCID but also has brought to light other causes of T cell lymphopenia that were previously lesser known. ADA-deficient SCID can be treated through enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), or gene therapy, and advances continue to be made every day that improve cost-effectiveness and efficacy of these therapies and make them more widely available to patients.
Hrafnhildur Linnet Runolfsdottir - One of the best experts on this subject based on the ideXlab platform.
-
Long-term renal outcomes of APRT deficiency presenting in childhood
Pediatric Nephrology, 2019Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M.sch. Agustsdottir, Olafur S. Indridason, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary Purine Metabolism Disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood. Methods The disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the Disorder before the age of 18 years, was studied. The effect of pharmacotherapy on renal manifestations and outcomes was thoroughly assessed. Results Fourteen children were placed on allopurinol, 100 (25–200) mg/day, at the age of 2.6 (0.6–16.5) years. Six of these patients had experienced kidney stone events and three had developed acute kidney injury (AKI) prior to allopurinol treatment. During 18.9 (1.7–31.5) years of pharmacotherapy, stones occurred in two patients and AKI in three. Six adult patients started allopurinol treatment, 200 (100–300) mg/day, at age 29.8 (20.5–42.4) years. Five of these patients had experienced 28 stone episodes and AKI had occurred in two. Stone recurrence occurred in four patients and AKI in two during 11.2 (4.2–19.6) years of allopurinol therapy. Lack of adherence and insufficient dosing contributed to stone recurrence and AKI during pharmacotherapy. At latest follow-up, estimated glomerular filtration rate (eGFR) was 114 (70–163) and 62 (10–103) mL/min/1.73 m^2 in those who initiated treatment as children and adults, respectively. All three patients with CKD stages 3–5 at the last follow-up were adults when pharmacotherapy was initiated. Conclusion Timely diagnosis and treatment of APRT deficiency decreases renal complications and preserves kidney function.
-
Long-term renal outcomes of APRT deficiency presenting in childhood
Pediatric nephrology (Berlin Germany), 2018Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M.sch. Agustsdottir, Olafur S. Indridason, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary Purine Metabolism Disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood.
-
kidney disease in adenine phosphoribosyltransferase deficiency
American Journal of Kidney Diseases, 2016Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Olafur S. Indridason, Inger Sch M Agustsdottir, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a Purine Metabolism Disorder causing kidney stones and chronic kidney disease (CKD). The course of nephrolithiasis and CKD has not been well characterized. The objective of this study was to examine long-term kidney outcomes in patients with APRT deficiency. Study Design An observational cohort study. Setting & Participants All patients enrolled in the APRT Deficiency Registry of the Rare Kidney Stone Consortium. Outcomes Kidney stones, acute kidney injury (AKI), stage of CKD, end-stage renal disease, estimated glomerular filtration rate (eGFR), and changes in eGFR. Measurements Serum creatinine and eGFR calculated using creatinine-based equations. Results Of 53 patients, 30 (57%) were females and median age at diagnosis was 37.0 (range, 0.6-67.9) years. Median duration of follow-up was 10.3 (range, 0.0-31.5) years. At diagnosis, kidney stones had developed in 29 (55%) patients and 20 (38%) had CKD stages 3 to 5, including 11 (21%) patients with stage 5. At latest follow-up, 33 (62%) patients had experienced kidney stones; 18 (34%), AKI; and 22 (42%), CKD stages 3 to 5. Of 14 (26%) patients with stage 5 CKD, 12 had initiated renal replacement therapy. Kidney stones recurred in 18 of 33 (55%) patients. The median eGFR slope was −0.38 (range, −21.99 to 1.42) mL/min/1.73m2 per year in patients receiving treatment with an xanthine dehydrogenase inhibitor and −5.74 (range, −75.8 to −0.10) mL/min/1.73m2 per year in those not treated prior to the development of stage 5 CKD (P=0.001). Limitations Use of observational registry data. Conclusions Progressive CKD and AKI episodes are major features of APRT deficiency, whereas nephrolithiasis is the most common presentation. Advanced CKD without a history of kidney stones is more prevalent than previously reported. Our data suggest that timely therapy may retard CKD progression.
Jasmine Alsukhon - One of the best experts on this subject based on the ideXlab platform.
-
severe combined immunodeficiency a Purine Metabolism Disorder
Pediatric Medicine, 2018Co-Authors: Jasmine Alsukhon, Ahmed Elisa, Shibani Kanungo, Roua AzmehAbstract:Severe combined immunodeficiency (SCID) is a primary immune deficiency that is a pediatric emergency. Left untreated, patients will die prior to 2 years of age from overwhelming infection. There are many known causes of SCID, but this review focuses on adenosine deaminase (ADA) deficiency. ADA is a ubiquitous “housekeeping” enzyme, and its deficiency leads to buildup of toxic metabolites, which preferentially affects lymphocytes but also causes non-immune manifestations of disease. While previously diagnosed based on recurrent, severe, or unusual infection, SCID is now being diagnosed during its initial asymptomatic period thanks to recent implementation of T cell receptor excision circle (TREC) newborn screening, thus greatly improving survival of patients as treatment can occur before the onset of infection. To date, TREC screening has shown 100% sensitivity for SCID but also has brought to light other causes of T cell lymphopenia that were previously lesser known. ADA-deficient SCID can be treated through enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), or gene therapy, and advances continue to be made every day that improve cost-effectiveness and efficacy of these therapies and make them more widely available to patients.
-
Severe combined immunodeficiency—a Purine Metabolism Disorder
Pediatric Medicine, 2018Co-Authors: Jasmine Alsukhon, Ahmed Elisa, Shibani Kanungo, Roua AzmehAbstract:Severe combined immunodeficiency (SCID) is a primary immune deficiency that is a pediatric emergency. Left untreated, patients will die prior to 2 years of age from overwhelming infection. There are many known causes of SCID, but this review focuses on adenosine deaminase (ADA) deficiency. ADA is a ubiquitous “housekeeping” enzyme, and its deficiency leads to buildup of toxic metabolites, which preferentially affects lymphocytes but also causes non-immune manifestations of disease. While previously diagnosed based on recurrent, severe, or unusual infection, SCID is now being diagnosed during its initial asymptomatic period thanks to recent implementation of T cell receptor excision circle (TREC) newborn screening, thus greatly improving survival of patients as treatment can occur before the onset of infection. To date, TREC screening has shown 100% sensitivity for SCID but also has brought to light other causes of T cell lymphopenia that were previously lesser known. ADA-deficient SCID can be treated through enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), or gene therapy, and advances continue to be made every day that improve cost-effectiveness and efficacy of these therapies and make them more widely available to patients.
Runolfur Palsson - One of the best experts on this subject based on the ideXlab platform.
-
Long-term renal outcomes of APRT deficiency presenting in childhood
Pediatric Nephrology, 2019Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M.sch. Agustsdottir, Olafur S. Indridason, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary Purine Metabolism Disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood. Methods The disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the Disorder before the age of 18 years, was studied. The effect of pharmacotherapy on renal manifestations and outcomes was thoroughly assessed. Results Fourteen children were placed on allopurinol, 100 (25–200) mg/day, at the age of 2.6 (0.6–16.5) years. Six of these patients had experienced kidney stone events and three had developed acute kidney injury (AKI) prior to allopurinol treatment. During 18.9 (1.7–31.5) years of pharmacotherapy, stones occurred in two patients and AKI in three. Six adult patients started allopurinol treatment, 200 (100–300) mg/day, at age 29.8 (20.5–42.4) years. Five of these patients had experienced 28 stone episodes and AKI had occurred in two. Stone recurrence occurred in four patients and AKI in two during 11.2 (4.2–19.6) years of allopurinol therapy. Lack of adherence and insufficient dosing contributed to stone recurrence and AKI during pharmacotherapy. At latest follow-up, estimated glomerular filtration rate (eGFR) was 114 (70–163) and 62 (10–103) mL/min/1.73 m^2 in those who initiated treatment as children and adults, respectively. All three patients with CKD stages 3–5 at the last follow-up were adults when pharmacotherapy was initiated. Conclusion Timely diagnosis and treatment of APRT deficiency decreases renal complications and preserves kidney function.
-
Long-term renal outcomes of APRT deficiency presenting in childhood
Pediatric nephrology (Berlin Germany), 2018Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M.sch. Agustsdottir, Olafur S. Indridason, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary Purine Metabolism Disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood.
-
kidney disease in adenine phosphoribosyltransferase deficiency
American Journal of Kidney Diseases, 2016Co-Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Olafur S. Indridason, Inger Sch M Agustsdottir, Vidar O. EdvardssonAbstract:Background Adenine phosphoribosyltransferase (APRT) deficiency is a Purine Metabolism Disorder causing kidney stones and chronic kidney disease (CKD). The course of nephrolithiasis and CKD has not been well characterized. The objective of this study was to examine long-term kidney outcomes in patients with APRT deficiency. Study Design An observational cohort study. Setting & Participants All patients enrolled in the APRT Deficiency Registry of the Rare Kidney Stone Consortium. Outcomes Kidney stones, acute kidney injury (AKI), stage of CKD, end-stage renal disease, estimated glomerular filtration rate (eGFR), and changes in eGFR. Measurements Serum creatinine and eGFR calculated using creatinine-based equations. Results Of 53 patients, 30 (57%) were females and median age at diagnosis was 37.0 (range, 0.6-67.9) years. Median duration of follow-up was 10.3 (range, 0.0-31.5) years. At diagnosis, kidney stones had developed in 29 (55%) patients and 20 (38%) had CKD stages 3 to 5, including 11 (21%) patients with stage 5. At latest follow-up, 33 (62%) patients had experienced kidney stones; 18 (34%), AKI; and 22 (42%), CKD stages 3 to 5. Of 14 (26%) patients with stage 5 CKD, 12 had initiated renal replacement therapy. Kidney stones recurred in 18 of 33 (55%) patients. The median eGFR slope was −0.38 (range, −21.99 to 1.42) mL/min/1.73m2 per year in patients receiving treatment with an xanthine dehydrogenase inhibitor and −5.74 (range, −75.8 to −0.10) mL/min/1.73m2 per year in those not treated prior to the development of stage 5 CKD (P=0.001). Limitations Use of observational registry data. Conclusions Progressive CKD and AKI episodes are major features of APRT deficiency, whereas nephrolithiasis is the most common presentation. Advanced CKD without a history of kidney stones is more prevalent than previously reported. Our data suggest that timely therapy may retard CKD progression.
