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Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa [PDF]
The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the world, attributed to the high prevalence of consanguinity.
Elgebaly, A. +5 more
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The Turkish Journal of Pediatrics, 1998 Autosomal recessive polycystic kidney disease (ARPCD) is a congenital kidney disease with severe prognosis. We present a male infant who was diagnosed prenatally by ultrasonography. He died at two months of age in a septic stage.
N Beşbaş +5 more
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Polycystic kidney disease in a Persian cat [PDF]
, 2015 A 6-year-old intact Persian cat was presented for the primary complaint of inappetence and weight loss. Irregular surface of kidneys was palpated during physical examination. Abdominal radiograph findings were indicative of renomegaly.
Khor, Kuan Hua +3 more
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Linchuang shenzangbing zazhi, 2016 一、背景多囊肾病（polycystic kidney disease,PKD）分为常染色体显性多囊肾病（autosomal dominant polycystic kidney disease,ADPKD）和常染色体隐性多囊肾病（aumsomal recessive polycystic kidney disease,ARPKD）两种,其中ADPKD是最常见的遗传性常染色体显性肾脏病。在美国,ADPKD发生率约为1/4001/1 000,约占终末期肾脏疾病（end stage of renal ...
葛雅婷, 熊祖应
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Autosomal-dominante polyzystische Nierenerkrankung: Neue therapeutische Ansätze [PDF]
, 2018 Zusammenfassung: Die autosomal-dominante polyzystische Nierenerkrankung ("autosomal dominant polycystic kidney disease", ADPKD) ist die häufigste genetische Nierenerkrankung, sie betrifft weltweit etwa 6Mio. Menschen.
Poster, D., Serra, A.L., Wüthrich, R.P.
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A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases
BMC Pregnancy and ChildbirthBackground Prenatal ultrasound findings of fetal bilateral echogenic kidneys accompanied by oligohydramnios can be highly stressful for both pregnant women and physicians.
Tim Phetthong +2 more
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Characterizing the nuclear import and functions of cystin, the ciliary protein disrupted in the cpk mouse model of recessive polycystic kidney disease [PDF]
, 2015 Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a ma-jor cause of pediatric morbidity and mortality. Typically, orthologous animal models are the mainstay for pathogenic studies of human diseases.
Watts, Jacob Asher
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Case Reports in Clinical Practice, 2017 Joubert syndrome and related disorders (JSRDs) are a group of anomalies characterized by hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and apnea and hyperpnea in infancy with multiorgan involvement in which the ...
Fatemeh Farahmand +3 more
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ClinicoEconomics and Outcomes Research, 2017 Luca Degli Esposti,1 Chiara Veronesi,1 Valentina Perrone,1 Stefano Buda,1 Antonio Santoro2 1Clicon S.r.l. Health, Economics & Outcomes Research, Ravenna, Italy; 2Department of Nephrology and Dialysis, Policlinico S.
Degli Esposti L +4 more
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