Results 81 to 90 of about 4,587 (195)
, 2010 Mutations in the INVS gene coding for inversin have been identified in patients with nephronophthisis type 2 (NPHP2), typically causing infantile onset of ESRD and potentially associated with situs inversus.
Bellavia, Salvatore +11 more
core +1 more source
Mutations in ANKS6 cause a Nephronophthisis‐Like Phenotype with End Stage Renal Disease
, 2014 Nephronophthisis (NPHP) is one of the most common genetic causes of chronic kidney disease (CKD); however the underlying genetic abnormalities have been established in less than 50% of cases.
Fatih Ozaltin (524819) +1 more
core +1 more source
A case of nephronophthisis discovered due to pregnancy with review of literatures
, 2017 A 20-year-old woman presented to the Department of Obstetrics and Gynecology of our hospital for a prenatal checkup at 33 weeks’ gestation. No abnormalities had been ever found in routine urine testing at school health checkups.
Mori, Atsushi +7 more
core
Nephronophthisis and medullary cystic kidney disease
, 2018 The inherited cystic kidney conditions nephronophthisis (NPHP) and medullary cystic kidney disease (MCKD) have previously been referred to as a NPHP–MCKD complex.
John A. Sayer
core +1 more source
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
, 2009 Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified.
Nuernberg, P. +15 more
core +1 more source
, 2011 Background. Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease (ESRD) in the first 3 decades of life. Treatment of patients with NPHP is symptomatic; kidney transplantation is the treatment of choice when ESRD is ...
F. Ozaltin +19 more
core +1 more source
, 1997 Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure. Familial juvenile nephronophthisis (NPH), an autosomal recessive cystic disease of the kidney, is the most common genetic cause of ...
APN, [Study group] +11 more
core +1 more source
Nephrocystin-3gene mutation causes1case of infant nephronophthisis and literature review
Linchuang shenzangbing zazhi, 2020 病例资料患者,女,1岁9个月。因"皮肤瘙痒3个月,发现血肌酐升高1个月"于2019年4月9日入住我科。患儿于入院前3个月无明显诱因出现全身皮肤瘙痒,无发热、咳涕,无吐泻,无皮疹、关节疼痛,无浮肿等不适;至当地医院皮肤科间断治疗2个月,症状无改善。20余天前无明显诱因下出现呕吐、腹泻,呕吐非喷射性,呕吐物无血丝、血块,解稀水便5～6次/d。至当地医院就诊,查腹部超声示双肾实质回声增强 ...
ZHAI Chun-tao +6 more
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