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Hereditary Renal Hypouricemia:A New Role for Allopurinol?

Hereditary renal hypouricemia is a genetic disorder characterized by defective renal handling of uric acid. The affected individuals are predisposed to recurrent episodes of exercise-induced non-myoglobinuric acute kidney injury and nephrolithiasis. The American Journal of Medicine

Hereditary Hemochromatosis:Missed Diagnosis or Misdiagnosis?

Abstract:Background:Hereditary hemochromatosis is a disorder that can cause iron overload and organ damage. Hereditary hemochromatosis is characterized by mutations in the HFE gene. HFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of developing manifestations of hemochromatosis. Abnormal iron study results also occur in many liver and hematologic diseases. The aim of [...]

Paired-eye comparison of Descemet’s stripping endothelial keratoplasty and penetrating keratoplasty in children with congenital hereditary endothelial dystrophy

Purpose

To report the surgical outcomes of Descemet’s stripping endothelial keratoplasty (DSEK) in cases of congenital hereditary endothelial dystrophy (CHED) cohort and compare it with penetrating keratoplasty (PK) in a paired-eye setting.

Methods

Ours is a retrospective,comparative,consecutive and interventional clinical case series. All patients less than 14 years of age who underwent PK [...]

Genetic Testing for Hereditary Cancer Syndromes

A fact sheet about genetic testing for inherited cancer risk,including types of tests,who should consider testing,how to understand test results,and who has access to a person’s test results. Also contains information about at-home or direct-to-consumer genetic tests. NCI Fact Sheets

Albright’s Hereditary Osteodystrophy

Most Viewed:NEJM Most Viewed Articles –Week

New drug shown safe,effective in treating hereditary angioedema

Clinical trials from two international research teams have shown that icatibant,a new drug that blocks the action of an inflammatory protein known as bradykinin,is safe and effective in treating acute attacks of hereditary angioedema,a potentially life-threatening condition. Mass General News Releases

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Y Shinar,L Obici,I Aksentijevich,B Bennetts,F Austrup,I Ceccherini,J M Costa,A De Leener,M Gattorno,U Kania,I Kone-Paut,S Lezer,A Livneh,I Moix,R Nishikomori,S Ozen,L Phylactou,L Risom,D Rowczenio,T Sarkisian,M E van Gijn,M Witsch-Baumgartner,M Morris,H M Hoffman,I TouitouOct [...]

Safety and Efficacy of Prophylactic Nanofiltered C1-inhibitor in Hereditary Angioedema

Abstract:Objective:Nanofiltered C1-inhibitor (C1INH-nf) is approved for prophylactic treatment of hereditary angioedema. This study assessed the efficacy and safety of C1INH-nf as prophylactic therapy in a large cohort of patients with hereditary angioedema.

Methods:An open-label multicenter extension study was performed involving 146 subjects with hereditary angioedema who were treated with C1INH-nf for up [...]

Clinical Impact of Peripheral Attacks in Hereditary Angioedema Patients

Abstract:Background:Episodes of acute subcutaneous angioedema affecting the extremities in patients with known hereditary angioedema are called peripheral attacks. These attacks are considered to be of limited clinical importance.

Objective:To evaluate the impact of peripheral attacks in patients with hereditary angioedema and to assess the response to treatment with recombinant human C1-inhibitor (rhC1INH).

[...]

Genetics:Titin mutation segregates with hereditary myopathy with respiratory failure

Genetics:Titin mutation segregates with hereditary myopathy with respiratory failure

Nature Reviews Neurology 8,354 (2012). doi:10.1038/nrneurol.2012.102

Author:Iley Ozerlat

An inherited mutation in the titin (TTN) gene is associated with hereditary myopathy with early respiratory failure (HMERF),report two new studies published in Brain. Respiratory failure is a rare but progressive [...]