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10.1530/EDM-17-0090 http://scihub22266oqcxt.onion/10.1530/EDM-17-0090 C5610347!5610347!28955442     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Endocrinol+Diabetes+Metab+Case+Rep 2017 ; 2017 (ä): ä Nephropedia Template TP {{tp|p=28955442|t=2017. Multicystic dysplastic kidney: a new association of Wolcott?Rallison syndrome |pdf=|usr=}}{{28955442}} gab.com Text Multicystic dysplastic kidney: a new association of Wolcott Rallison syndrome JO: Endocrinol Diabetes Metab Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28955442 #FOAvip Wolcott?Rallison syndrome (WRS) is a rare autosomal recessive disorder due to mutations in the EIF2AK3 gene. It is characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, liver impairment, neutropenia and renal dysfunction. Liver is the most commonly affected organ and liver failure is the commonest cause of death in this syndrome. The EIF2AK3 gene encodes a transmembrane protein PERK, which is important for the cellular response to endoplasmic reticulum (ER) stress. The absence of PERK activity reduces the ER?s abilities to deal with stress, leading to cell death by apoptosis. On acquiring febrile illness, affected patients suffer from liver injury, which may progress into liver failure and death. Renal involvement is less common and is mainly in the form of functional renal impairment at the advanced stage of the disease. Structural renal anomalies have not been reported in WRS. We report a 6-month-old girl who presented with neonatal diabetes on day 1 of life. Her genetic testing confirmed WRS due to missense mutation in the EIF2AK3 gene (c.2867G?>?A, p.Gly956Glu). Parents are first-degree cousins and both are heterozygous carriers to the mutation. 2 paternal uncles had the same mutation and died of liver disease at 1 and 14 years of age. Neither had a renal disease. She presented with hematuria during a febrile illness at the age of 5 months. Ultrasound scan showed right ectopic multicystic dysplastic kidney (MCDK). To the best of our knowledge, this is the first patient with WRS who is reported to have an MCDK disease.Learning points:: Neonatal diabetes should be considered in babies presenting with early hyperglycemia particularly if there is a family history.Genetic diagnosis in neonatal diabetes enables disease confirmation, genetic counseling and anticipation of potential complications during concomitant situations such as acute illness, trauma or major surgery.There is lack of phenotype?genotype correlation in Wolcott?Rallison syndrome.Structural kidney abnormality, in our case MCDK, can be seen in WRS. Twit Text FOAVip Multicystic dysplastic kidney: a new association of Wolcott Rallison syndrome ????Endocrinol Diabetes Metab Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28955442 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28955442 #FOAvip English Wikipedia <ref>{{Cite pmid|28955442}}</ref> Multicystic dysplastic kidney: a new association of Wolcott?Rallison syndrome #MMPMID28955442 Deeb A; Al-Zidgali F; Ofoegbu BN Endocrinol Diabetes Metab Case Rep 2017[]; 2017 (ä): ä PMID28955442show ga Wolcott?Rallison syndrome (WRS) is a rare autosomal recessive disorder due to mutations in the EIF2AK3 gene. It is characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, liver impairment, neutropenia and renal dysfunction. Liver is the most commonly affected organ and liver failure is the commonest cause of death in this syndrome. The EIF2AK3 gene encodes a transmembrane protein PERK, which is important for the cellular response to endoplasmic reticulum (ER) stress. The absence of PERK activity reduces the ER?s abilities to deal with stress, leading to cell death by apoptosis. On acquiring febrile illness, affected patients suffer from liver injury, which may progress into liver failure and death. Renal involvement is less common and is mainly in the form of functional renal impairment at the advanced stage of the disease. Structural renal anomalies have not been reported in WRS. We report a 6-month-old girl who presented with neonatal diabetes on day 1 of life. Her genetic testing confirmed WRS due to missense mutation in the EIF2AK3 gene (c.2867G?>?A, p.Gly956Glu). Parents are first-degree cousins and both are heterozygous carriers to the mutation. 2 paternal uncles had the same mutation and died of liver disease at 1 and 14 years of age. Neither had a renal disease. She presented with hematuria during a febrile illness at the age of 5 months. Ultrasound scan showed right ectopic multicystic dysplastic kidney (MCDK). To the best of our knowledge, this is the first patient with WRS who is reported to have an MCDK disease.Learning points:: Neonatal diabetes should be considered in babies presenting with early hyperglycemia particularly if there is a family history.Genetic diagnosis in neonatal diabetes enables disease confirmation, genetic counseling and anticipation of potential complications during concomitant situations such as acute illness, trauma or major surgery.There is lack of phenotype?genotype correlation in Wolcott?Rallison syndrome.Structural kidney abnormality, in our case MCDK, can be seen in WRS. äMulticystic dysplastic kidney: a new association of Wolcott?Rallison s(epmc).pdf DeepDyve Pubget Overpricing