familial juvenile Nephronophthisis

A hereditary, autosomal recessive cystic kidney disease that leads to RENAL FAILURE in childhood or adolescence. It is the most frequent genetic cause of renal failure in children and is characterized by ANEMIA; POLYURIA; POLYDYPSIA, and isosthenuria; extrarenal manifestations may include, LIVER FIBROSIS; SITUS INVERSUS, and cardiac malformations. Mutations in the NPHP1 gene have been identified. OMIM: 256100

Also Known As:

Networked: 30 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Infertility (Sterility)
2.	Cystic Kidney Diseases (Cystic Kidney Disease)
3.	Fibrosis (Cirrhosis)
4.	Renal Insufficiency (Renal Failure)
5.	Polyuria

Experts

1.	Antignac, Corinne: 3 articles (05/2005 - 10/2002)
2.	Saunier, Sophie: 3 articles (05/2005 - 10/2002)
3.	Sugimoto, Keisuke: 2 articles (01/2020 - 07/2011)
4.	Takemura, Tsukasa: 2 articles (01/2020 - 07/2011)
5.	Mollet, Géraldine: 2 articles (03/2005 - 10/2002)
6.	Salomon, Rémi: 2 articles (03/2005 - 10/2002)
7.	Silbermann, Flora: 2 articles (03/2005 - 10/2002)
8.	Abdelwahed, Mayssa: 1 article (02/2021)
9.	Belguith, Neila: 1 article (02/2021)
10.	Benoit, Valerie: 1 article (02/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to familial juvenile Nephronophthisis:

1.	Biomarkers (Surrogate Marker)IBA 07/01/2015 - "Thus, besides the decisive association with juvenile nephronophthisis, our study provides the first direct evidence that NPHP1 is associated with male factor infertility and also could be a possible biomarker for the assessment of male fertility status. "
2.	Proteins (Proteins, Gene)FDA Link 09/01/2008 - "RT-PCR analysis of NPHP4 in cases and controls showed exon skipping of exon 5, resulting in a truncated protein that retains the binding domain interacting with nephronophthisis 1 (also known as nephrocystin-1) in the kidney but lacks the domain interacting with RPGRIP1 in retina. " 10/01/2002 - "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin." 12/01/1997 - "A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis." 08/09/2002 - "Nephrocystin is the protein product of the gene mutated in juvenile nephronophthisis, an autosomal recessive cystic kidney disease afflicting children and young adults. " 04/10/2000 - "A yeast two-hybrid screen using the C-terminal region of Cas as a bait identified the Src homology 3 (SH3) domain of the mouse "nephrocystin" protein-orthologous to a human protein whose loss of function leads to the cystic kidney disease familial juvenile nephronophthisis. "
3.	TinIBA 02/05/2000 - "These results may provide further evidence for understanding TIN-ag molecule and clues for gene analysis of juvenile nephronophthisis." 02/05/2000 - "Further investigations elucidated that TIN-ag plays a role in renal tubulogenesis and that TIN-ag is defected in hereditary tubulointerstitial disorder such as juvenile nephronophthisis. " 07/01/2011 - "The relationship between abnormalities of tubular architecture and tubulointerstitial nephritis antigen (TIN-ag) in juvenile nephronophthisis (J-NPH) was evaluated. "
4.	SodiumIBA 08/01/1995 - "Juvenile nephronophthisis features sodium wasting, anemia, and renal failure. " 01/01/1977 - "Nephronophthisis (previously described as familial juvenile nephronophthisis and medullary cystic disease) is characterized by insidious renal failure, its main features being increased urinary sodium loss, pitressin-resistant hypotomic polyuria, polydipsia, normal urine sediment and absence of hypertension. "
5.	Retinaldehyde (Retinal)IBA 10/01/1979 - "Retinal manifestations in familial juvenile nephronophthisis." 07/01/1978 - "This report describes clinical and morphological findings in monozygotic twins in whom the triad of juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia coexisted. " 07/01/1978 - "Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins."
6.	UromodulinIBA 08/01/2016 - "Uromodulin (UMOD), known to be involved in adult medullary cystic kidney disease, and nephronophthisis 1 (NPHP1) were investigated in the genomic DNA of the probands using DNA sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis and molecular karyotyping. "
7.	PAX2 Transcription FactorIBA 08/01/2002 - "Expression of nuclear transcription factor PAX2 in renal biopsies of juvenile nephronophthisis."
8.	CateninsIBA 12/01/2010 - "This case shows that INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/β-catenin pathway."
9.	beta CateninIBA 12/01/2010 - "A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway."
10.	Collagen Type IV (Type IV Collagen)IBA 01/01/1999 - "in juvenile nephronophthisis where interstitial fibrosis predominates, or in Alport's syndrome where glomerulosclerosis is triggered probably by unbalanced distribution of alpha chains of type IV collagen in glomerular basement membrane. "

Therapies and Procedures

1.	Kidney Transplantation 01/01/2020 - "Living-Related Kidney Transplantation in a Patient with Juvenile Nephronophthisis." 04/01/2011 - "Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience." 09/01/1992 - "Familial juvenile nephronophthisis and renal transplantation in two siblings."
2.	Continuous Ambulatory Peritoneal Dialysis (CAPD) 01/01/2004 - "CASE 2: A 14-year-old boy had bilateral retinitis pigmentosa and juvenile nephronophthisis with continuous ambulatory peritoneal dialysis. " 10/01/1988 - "We report on the case of an 11-year-old boy suffering from juvenile nephronophthisis who developed bilateral inguinal hernia (on the right as a recurrence of the neonatal operation) 5 days and 4 months after starting CAPD treatment. "
3.	Ligation 02/01/2021 - "Methods: we investigated clinical and molecular features in two children with Juvenile nephronophthisis using firstly Multiplex ligation-dependent probe amplification (MLPA) and secondly multiplex PCR. " 08/01/2016 - "Uromodulin (UMOD), known to be involved in adult medullary cystic kidney disease, and nephronophthisis 1 (NPHP1) were investigated in the genomic DNA of the probands using DNA sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis and molecular karyotyping. "
4.	Transplantation 11/01/1975 - "The average age at the primary transplantation was 12 years and average body weight 29.7 kg. Five patients had familial juvenile nephronophthisis, 5 chronic glomerulonephritis, 5 chronic pyelonephritis, and one bilateral Wilms's tumour. "
5.	Therapeutics 01/01/2020 - "Since the molecular pathogenesis caused by NPHP1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for juvenile nephronophthisis."