title: Nephronophthisis in two siblings.
abstract: We describe here two sisters with nephronophthisis, which was not detected until the development of endstage renal failure. Twenty- and 15-year-old female siblings were admitted to our hospital for further examination of renal dysfunction. No urinalysis abnormalities had been found in yearly health checks in either patient. The serum creatinine level was 7.2 mg/dl in case 1 (the 20-year-old) and 6.4 mg/dl in case 2. Medical history, physical findings, and laboratory tests showed no evidence of urinary tract infection, use of any drugs, arthritis, or skin eruptions. To identify the cause of the renal failure, open left renal biopsies were performed in both patients. Histopathological findings were very similar in the two patients and included marked tubular and interstitial changes (tubular dilatation, focal tubular atrophy, interstitial fibrosis, and infiltration of mononuclear cells). The glomeruli were devoid of mesangial proliferation, mesangial expansion, and adhesion of Bowman's capsule. Based on the clinical and pathological findings, the final diagnosis was nephronophthisis in both patients. It is important to remember that some progressive renal diseases, including nephronophthisis, cannot be detected even by annual urinary screening tests, which are widely performed in Japan.
authors.affiliation: Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan. mam-ngs@umin.ac.jp.
authors.forename: Mamiko
authors.initials: M
authors.lastname: Ashizawa
authors.affiliation: Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
authors.forename: Masanobu
authors.initials: M
authors.lastname: Miyazaki
authors.affiliation: Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Furusu
authors.affiliation: Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
authors.forename: Katsushige
authors.initials: K
authors.lastname: Abe
authors.affiliation: Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Kanamoto
authors.affiliation: Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Iwanaga
authors.affiliation: Department of General Medicine, Nagasaki University School of Medicine, Nagasaki, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Ozono
authors.affiliation: Division of Renal Care Unit, Nagasaki University School of Medicine, Nagasaki, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Harada
authors.affiliation: Second Department of Pathology, Nagasaki University School of Medicine, Nagasaki, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Taguchi
authors.affiliation: Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kohno
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000473:pathology*; D007678:Kidney Glomerulus / Q000473:pathology* / Q000648:ultrastructure; D007684:Kidney Tubules / Q000473:pathology*; D008854:Microscopy, Electron; D009399:Nephrons / Q000473:pathology / Q000648:ultrastructure; D007690:Polycystic Kidney Diseases / Q000473:pathology*; D035781:Siblings