Fetal ciliopathies: a retrospective observational single-center study

Simonini, Corinna; Floeck, Anne; Strizek, Brigitte; Müeller, Andreas; Gembruch, Ulrich; Geipel, A.

doi:10.1007/s00404-021-06265-7

Cited by 5 publications

(7 citation statements)

References 35 publications

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“…Consistent with previous findings, kidney abnormalities in our cohort usually did not become apparent until the 2nd trimester [1,2,4,8,22]. In BBS/MKKS, Mainzer-Saldino syndrome and RTD, abnormalities presented even later in pregnancy.…”

Section: Time Of Diagnosissupporting

confidence: 91%

“…Similar to ARPKD, oligo-and anhydramnios from second trimester onwards are typical for RTD [5] and MKS [1,23]. Fetuses with JS, Jeune syndrome and MKKS/BBS usually show normal AF [2,8], whereas fetuses with overgrowth syndromes tend to show higher occurrence of polyhydramnios [2,4].…”

Section: Amniotic Fluid (Af) Volumementioning

confidence: 92%

“…Cases with only unilateral kidney changes, urinary tract obstruction as well as drug-induced nephropathies were excluded from this study. Some of the cases included have been reported previously [1,8]. Statistical analysis was performed using SAS 9.4 (2002-2012 by SAS Institute Inc., Cary, NC, USA).…”

Section: Methodsmentioning

confidence: 99%

“…Renal changes in fetuses with Joubert syndrome (enlarged, hyperechogenic, cystic kidneys with reduced or absent CMD) are found in approximately 25-30% [2,8,15] and dependent on the underlying mutations [16]. In Jeune syndrome, renal abnormalities were present in approximately 1/3 of cases and mainly include cysts or hydronephrosis [8,17].…”

Section: Renal Changes In Different Diseasesmentioning

confidence: 99%

“…In MKKS, renal disease occurs less frequently and is often secondary to genital malformations. Common renal changes include cyst formation, absent CMD as well as hydronephrosis [8,19]. SGBS is characterized by visceral enlargement, often also involving the kidneys, and polyhydramnios is seen frequently.…”

Section: Renal Changes In Different Diseasesmentioning

confidence: 99%

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Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm

Simonini

Fröschen

Nadal

et al. 2022

Arch Gynecol Obstet

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Purpose Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm. Methods Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities. Results Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel–Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick–Kaufman- and Bardet–Biedl syndrome, overgrowth syndromes, Mainzer–Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%). Conclusion Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.

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Section: Time Of Diagnosissupporting

confidence: 91%

Section: Amniotic Fluid (Af) Volumementioning

confidence: 92%

Section: Methodsmentioning

confidence: 99%

Section: Renal Changes In Different Diseasesmentioning

confidence: 99%

Section: Renal Changes In Different Diseasesmentioning

confidence: 99%

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Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm

Simonini

Fröschen

Nadal

et al. 2022

Arch Gynecol Obstet

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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Bruel

Ganga

Nosková

et al. 2023

Human Molecular Genetics

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Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogeneous disorders characterized by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in over twenty genes encoding ciliary proteins have been found to cause OFDS through deleterious structural or functional impacts on primary cilia. We identified by exome sequencing bi-allelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families. Affected individuals presented a novel form of OFDS (OFDS-RAB34) accompanied by cardiac, cerebral, skeletal, and anorectal defects. RAB34 encodes a member of the Rab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Unlike many genes required for cilium assembly, RAB34 acts selectively in cell types that use the intracellular ciliogenesis pathway, in which nascent cilia begin to form in the cytoplasm. We find that the protein products of these pathogenic variants, which are clustered near the RAB34 C-terminus, exhibit a strong loss of function. Although some variants retain the ability to be recruited to the mother centriole, cells expressing mutant RAB34 exhibit a significant defect in cilium assembly. While many Rab proteins have been previously linked to ciliogenesis, our studies establish RAB34 as the first small GTPase involved in OFDS and reveal the distinct clinical manifestations caused by impairment of intracellular ciliogenesis.

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Renal Pathology of Ciliopathies

Sekar,

Sebire

2024

Pediatr Dev Pathol

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Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension. We summarize the current understanding of the pathophysiological and pathological features of renal ciliopathies in childhood, including autosomal dominant and recessive polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome, as well as skeletal dysplasia associated renal ciliopathies. The genetic basis of these disorders is now well-established in many cases, with mutations in a large number of cilia-related genes such as PKD1, PKD2, BBS, MKS, and NPHP being responsible for the majority of cases. Renal ciliopathies are broadly characterized by development of interstitial fibrosis and formation of multiple renal cysts which gradually enlarge and replace normal renal tissue, with each condition demonstrating subtle differences in the degree, location, and age-related development of cysts and fibrosis. Presentation varies from prenatal diagnosis of congenital multisystem syndromes to an asymptomatic childhood with development of complications in later adulthood and therefore clinicopathological correlation is important, including increasing use of targeted genetic testing or whole genome sequencing, allowing greater understanding of genetic pathophysiological mechanisms.

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Fetal ciliopathies: a retrospective observational single-center study

Cited by 5 publications

References 35 publications

Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm

Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Renal Pathology of Ciliopathies

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