WordNet

relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
of or relating to or characteristic of or appropriate for children or young people; "juvenile diabetes"; "juvenile fashions"
a young person, not fully developed (同)juvenile person

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1. ネフロン癆の臨床症状、診断、および治療 clinical manifestations diagnosis and treatment of nephronophthisis
2. ネフロン癆の遺伝学および病因 genetics and pathogenesis of nephronophthisis
3. カロリー病 caroli disease

Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.

Qiu L1, Zhou J2.
BMC pediatrics.BMC Pediatr.2016 Mar 22;16:44. doi: 10.1186/s12887-016-0583-0.
BACKGROUND: LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria. NPHP1 mutations cause familial juvenile nephronophthisis type 1 (NPH
PMID 27004562

R H1.
Journal of clinical and diagnostic research : JCDR.J Clin Diagn Res.2014 Nov;8(11):MD04-5. doi: 10.7860/JCDR/2014/9688.5120. Epub 2014 Nov 20.
Senior - Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto - retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe rena
PMID 25584255

Albaramki J1, Akl K, Hamed R, Wahbeh A.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia.Saudi J Kidney Dis Transpl.2014 May;25(3):630-3.
Nephronophthisis is an autosomal recessive disease that leads to end-stage renal disease. These days, molecular genetic analysis is used pre-emptively for making a definitive diagnosis in patients who have clinical and radiological data suggestive of the disease. Herein, we are reporting a 12-year-o
PMID 24821164