Juvenile nephronophthisis. Part 2. A histologic and microangiographic study.
نویسندگان
چکیده
منابع مشابه
Molecular genetics of nephronophthisis and medullary cystic kidney disease.
Nephronophthisis (NPH) and medullary cystic kidney disease (MCKD) constitute a group of renal cystic diseases that share the macroscopic feature of cyst development at the corticomedullary border of the kidneys. The disease variants also have in common a characteristic renal histologic triad of tubular basement membrane disintegration, tubular atrophy with cyst development, and interstitial cel...
متن کاملEDUCATIONAL REVIEW Nephronophthisis
Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form). In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the foll...
متن کاملExclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus.
BACKGROUND Nephronophthisis (NPH) is an autosomal recessively transmitted kidney disease, characterized by cyst formation at the cortico-medullary junction, and a sclerosing tubulointerstitial nephropathy. Juvenile nephronophthisis (NPH1) is the most common genetic cause of renal failure in children and maps to chromosome 2q12-q13. The responsible gene NPHP1 has been identified and encodes for ...
متن کاملFamilial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.
Fourteen patients with familial juvenile nephronophthisis are described, eight of whom displayed one or more additional disorders. One boy with short limbed dwarfism and an abnormal chest was considered to have Jeune's syndrome; review of the published reports supports the view that nephronophthisis is the principal cause of renal failure in this disorder. Another patient with renal failure and...
متن کاملSector retinitis pigmentosa in juvenile nephronophthisis.
In a patient with juvenile nephronophthisis, sector retinitis pigmentosa was found as an extrarenal manifestation, establishing a hitherto undescribed variety of retinal degeneration occurring in this disorder. The retinal function in this case was identical with that in the classic type of sector retinitis pigmentosa, namely, subnormal ERG amplitudes but normal cone and rod implicit times. The...
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ورودعنوان ژورنال:
- Acta paediatrica
دوره 49 شماره
صفحات -
تاریخ انتشار 1960