<![CDATA[Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions]]>

1 JournalArticle zh-CHS <![CDATA[Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions]]> Nephronophthisis-related ciliopathies (NPHP-RC) represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date, more than 90 genes have been identified that cause autosomal-recessive NPHP-RC if mutated, accounting for up to 60% of cases.1 Among these, homozygous deletions of NPHP1 are the most common cause. Ciliopathy genes localize to primary cilia, basal bodies, or the centrosome and lead to a primary ciliary disruption if mutated, thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype, such as polyuria, polydipsia, decreased urinary concentration ability, and secondary enuresis due to loss of tubular function, or present with extrarenal symptoms including retinal degeneration, cerebellar vermis hypoplasia, or hepatic fibrosis. Patients are often diagnosed in early adolescence, reaching end-stage renal disease before 25 years of age, but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

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