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Title of Journal: Pediatr Nephrol

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Abbravation: Pediatric Nephrology

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Springer-Verlag

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DOI

10.1016/0168-1176(90)85085-g

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1432-198X

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Is genetic testing of healthy presymptomatic chil

Authors: Lawrence Copelovitch Bernard S Kaplan
Publish Date: 2006/02/21
Volume: 21, Issue: 4, Pages: 455-456
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Abstract

It was with great interest that we read the article by Slajpah et al 1 entitled The importance of noninvasive genetic analysis in the initial diagnosis of Alport syndrome in young patients Genetic technology now provides us with the ability to diagnose diseases that are not only presymptomatic but become clinically important only in adulthood Some of these lateonset diseases with a high degree of predictability based on genetic tests include myotonic dystrophy hemochromatosis autosomal dominant polycystic kidney disease PKD Alport syndrome Huntington disease and some cancer syndromes including breast cancer 2 Unfortunately our ability to make early genetic diagnoses in these disorders is far ahead of our capability to effectively slow down or halt their progression let alone offer any prospect for a cure With this in mind we suggest that presymptomatic genetic testing of children with

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  2. Abdominal pain in a female adolescent: answer
  3. Simvastatin ameliorates glomerulosclerosis in Adriamycin-induced-nephropathy rats
  4. Henoch-Schönlein purpura nephritis with nephrotic state in children: predictors of poor outcomes
  5. CFH gene mutation in a case of Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS)
  6. Vincristine treatment in steroid-dependent nephrotic syndrome
  7. Roles of renal ammonia metabolism other than in acid–base homeostasis
  8. Catastrophic antiphospholipid antibody syndrome
  9. Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy
  10. Rhabdomyolysis: pathogenesis of renal injury and management
  11. Long-term outcome of children treated with rituximab for idiopathic nephrotic syndrome
  12. The clinical and laboratory features of Chinese Han anti-factor H autoantibody-associated hemolytic uremic syndrome
  13. Erratum to: Health-related quality of life and mental health in parents of children with hemolytic uremic syndrome
  14. Erratum to: Health-related quality of life and mental health in parents of children with hemolytic uremic syndrome
  15. Success of eculizumab in the treatment of atypical hemolytic uremic syndrome
  16. Fungal peritonitis in children on peritoneal dialysis
  17. A case of dense deposit disease associated with a group A streptococcal infection without the involvement of C3NeF or complement factor H deficiency
  18. Intravenous delivery of cysteamine for the treatment of cystinosis: association with hepatotoxicity
  19. An unusual cause of pleural effusion, urinothorax in a child with urinary stone disease
  20. Genetic polymorphisms and risk for acute renal failure in preterm neonates
  21. Outcome of dialysis in children with human immunodeficiency virus infection
  22. Outcome after renal transplantation. Part I: Intellectual and motor performance
  23. International validation of a urinary biomarker panel for identification of active lupus nephritis in children
  24. Macrovascular involvement in a child with atypical hemolytic uremic syndrome
  25. An infant presenting with a non-functional kidney on dimercaptosuccinic acid scan: question
  26. Maternal diabetes programs hypertension and kidney injury in offspring
  27. Nutritional management and growth in children with chronic kidney disease
  28. Hypertension and hemodialysis: pathophysiology and outcomes in adult and pediatric populations
  29. Age-related differences in Adriamycin-induced nephropathy
  30. Pattern of double glomerulopathy in children
  31. Growth after renal transplantation in infancy or early childhood
  32. Re-establishment of the ERA-EDTA Registry
  33. Primary hyperoxalurias: diagnosis and treatment
  34. Treatment of Wilms tumor-related hypertension with losartan and captopril
  35. NOx (nitrite/nitrate) in patients with pediatric nephrotic syndrome
  36. Vitamin D deficiency and parathyroid hormone levels following renal transplantation in children
  37. Circulating factor in FSGS: a black sheep in the suPAR family?
  38. Renin–angiotensin II–aldosterone system blockers and time to renal replacement therapy in children with CKD
  39. Factors affecting histological regression of crescentic Henoch–Schönlein nephritis in children
  40. The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
  41. The BK virus in renal transplant recipients—review of pathogenesis, diagnosis, and treatment
  42. Patterning and early cell lineage decisions in the developing kidney: the role of Pax genes
  43. Longitudinal growth in chronic hypokalemic disorders
  44. Sonic tooth brushing reduces gingival overgrowth in renal transplant recipients
  45. Genetic polymorphisms influence the steroid treatment of children with idiopathic nephrotic syndrome
  46. Severe neutropenia in children after renal transplantation: incidence, course, and treatment with granulocyte colony-stimulating factor
  47. Discrepancies in office and ambulatory blood pressure in adolescents: help or hindrance?
  48. Utility of fractional excretion of urea in the differential diagnosis of acute kidney injury in children
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  52. Neurological involvement in a child with atypical hemolytic uremic syndrome
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  61. Sodium and potassium clearances by the maturing kidney: clinical-molecular correlates
  62. Atypical relapse of hemolytic uremic syndrome after transplantation
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  65. Searching the optimal PTH target range in children undergoing peritoneal dialysis: New insights from international cohort studies
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