Late-onset renal failure in Senior-Loken syndrome

Georges, Benoît; Cosyns, Jean‐Pierre; Dahan, Karin; Snyers, Bernadette; Carlier, B.; Loute, Guy; Pirson, Yves

doi:10.1053/ajkd.2000.19845

Cited by 27 publications

(20 citation statements)

References 16 publications

(9 reference statements)

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“…So far, three clinical forms of NPHP have been distinguished by onset of ESRD: infantile, juvenile, and adolescent NPHP, which manifest with ESRD at the median ages of < 4, 13, and 19 years, respectively [3]. Georges et al described 4 patients with Senior-Løken syndrome leading to ESRD between the ages of 42 and 56 years [15]. A possible explanation for the different age at ESRD could be the influence of yet unknown modifier genes.…”

Section: Discussionmentioning

confidence: 99%

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

et al. 2011

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Nephronophthisis (NPHP) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts. NPHP leads to end-stage renal failure in the first two decades of life and is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in eleven genes (NPHP1-11) have been identified. Extrarenal manifestations are known, such as retinitis pigmentosa (Senior-Løken syndrome, SLS), brainstem and cerebellar anomalies (Joubert syndrome), liver fibrosis, and ocular motor apraxia type Cogan. We report on a Turkish family with clinical signs of nephronophthisis. The phenotype occurred in two generations and therefore seemed to be inherited in an autosomal dominant pattern. Nevertheless, a deletion analysis of the NPHP1 gene on chromosome 2 was performed and showed a homozygous deletion. Analysis of the family pedigree indicated no obvious consanguinity in the last three generations. However, haplotype analysis demonstrated homozygosity on chromosome 2 indicating a common ancestor to the parents of all affected individuals. NPHP1 deletion analysis should always be considered in patients with apparently dominant nephronophthisis, especially from likely consanguineous families.

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Section: Discussionmentioning

confidence: 99%

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

et al. 2011

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“…The main characteristics of these three subtypes of NPHP are summarized in Table . However, there have been several case reports of patients with NPHP who progressed to ESRD between the ages of 27 and 56 years . These cases of NPHP extend the age of ESRD from birth to the sixth decade of life.…”

Section: Clinical Manifestations Of Nphpmentioning

confidence: 99%

Nephronophthisis: A review of genotype–phenotype correlation

Luo

Tao

2018

Nephrology

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Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end‐stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. In 10%–20% of cases, there are additional features of a ciliopathy syndrome, such as retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephronophthisis patients may be needed.

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“…RP has been observed in association with mutations in most NPHP genes (except NPHP7 ), but whereas RP is always present and severe in patients with NPHP5 and NPHP6 mutations, the symptoms are in general mild in patients with mutations in the other NPHP genes. Georges et al reported on four patients, from three different families, with RP responsible for severe visual impairment during childhood who developed chronic interstitial nephritis with histological lesions characteristic of NPH and renal failure only between 42 and 56 years of age [21]. No NPHP1 deletion was found in these patients, but the other genes were not analyzed.…”

Section: Introductionmentioning

confidence: 99%

Nephronophthisis

2008

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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 following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cysts occur usually after patients have progressed to end-stage renal failure. Histologic lesions are characterized by tubular basement membrane anomalies, tubular atrophy, and interstitial fibrosis. The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Løken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. Positional cloning and candidate gene approaches led to the identification of eight causative genes (NPHP1, 3, 4, 5, 6, 7, 8, and 9) responsible for the juvenile NPH and one gene NPHP2 for the infantile form. NPH and associated disorders are considered as ciliopathies, as all NPHP gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins.

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Late-onset renal failure in Senior-Loken syndrome

Cited by 27 publications

References 16 publications

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

Nephronophthisis: A review of genotype–phenotype correlation

Nephronophthisis

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