Renal lesion in Jeune's syndrome

Shah, Kishore

doi:10.1259/0007-1285-53-629-432

Cited by 34 publications

(20 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Similar renal anomalies are described in patients with ATD [5,6]. Chronic renal failure secondary to nephronophthisis is described in older children with ATD [7].…”

Section: Discussionsupporting

confidence: 54%

“…Pulmonary insufficiency is severe and more frequent, whereas dental and cardiac defects are less common in patients with ATD than in patients with EvC syndrome. Reported renal anomalies in ATD include agenesis, dysplasia, and congenital megaureter [5,6]. While nephronophthisis has been occasionally reported in older children with ATD [6,7], it has, however, not been described in patients with EvC syndrome.…”

Section: Introductionmentioning

confidence: 99%

“…Reported renal anomalies in ATD include agenesis, dysplasia, and congenital megaureter [5,6]. While nephronophthisis has been occasionally reported in older children with ATD [6,7], it has, however, not been described in patients with EvC syndrome. Here we report severe hypertension and chronic renal failure associated with nephronophthisis in a patient with EvC syndrome.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Nephronophthisis associated with Ellis-van Creveld syndrome

et al. 1998

View full text Add to dashboard Cite

Ellis-van Creveld (EvC) and Jeune's asphyxiating thoracic dystrophy (ATD) are related disorders characterized by narrow thoracic cage and short-limbed dwarfism. Some patients have overlapping features of both ATD and EvC, indicating that these syndromes may be a part of a disease spectrum. Nephronophthisis has been occasionally reported in patients with ATD, but not with EvC syndrome. We report a patient who was diagnosed with EvC syndrome at birth. He developed hypertension at 5 months of age and gradually progressive renal failure, requiring renal transplantation at 8 years. Histopathological findings in the nephrectomy specimen were indicative of nephronophthisis. The association of nephronophthisis in a patient with EvC syndrome has not been reported previously. This association further supports the hypothesis that ATD and EvC syndromes are related and represent a spectrum of disorders.

show abstract

“…Similar renal anomalies are described in patients with ATD [5,6]. Chronic renal failure secondary to nephronophthisis is described in older children with ATD [7].…”

Section: Discussionsupporting

confidence: 54%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Nephronophthisis associated with Ellis-van Creveld syndrome

et al. 1998

View full text Add to dashboard Cite

show abstract

“…When it is present, the postaxial polydactyly occurs most frequently in the distribution of bilateral hands and feet. The frequency of hepatic problems occurs in <30% of reported cases, and it is difficult to predict risk of developing liver disease based upon the presence of skeletal findings [Karjoo et al, 1973;Friedman et al, 1975;Oberklaid et al, 1977;Shah, 1980;Turkel et al, 1985;Hudgins et al, 1990;Labrune et al, 1999;Krakow et al, 2000;Kajantie et al, 2001;Ö zçay et al, 2001;Morgan et al, 2003;Yerian et al, 2003;Tuysuz et al, 2009;De Vries et al, 2010;Lehman et al, 2010]. In addition, from review of the literature, most cases with hepatic structural changes are identified at autopsy, but are usually clinically mild, stable, or resolve with therapy.…”

Section: Discussionmentioning

confidence: 99%

“…Renal findings of hypertension in 2nd-3rd year of life, renal cysts (which may progress to tubular atrophy), and renal failure occurring in infancy, adolescence, or second decade of life are reported [Oberklaid et al, 1977], none of which were found in these eight cases. Renal failure occurred in 38% of those with kidney involvement [Oberklaid et al, 1977;Shah, 1980;Ring et al, 1990;Amirou et al, 1998;Tuysuz et al, 2009;De Vries et al, 2010]. The predominant cause of death for patients aged 3-10 years is renal in origin.…”

Section: Discussionmentioning

confidence: 99%

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Keppler‐Noreuil

Adam

Welch

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. [Jeune et al. (1955); Arch Fr Pediatr 12:886-891], is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities, and variable renal, hepatic, pancreatic, and retinal complications. We present eight patients, including two brothers with Jeune syndrome, and an extensive review of 118 cases in the published literature with the purposes of: (1) defining the clinical and radiological diagnostic criteria for Jeune syndrome; (2) comparing our cases to those in the literature meeting the documented clinical and radiological findings of Jeune syndrome, in order to: (3) provide an accurate clinical characterization of Jeune syndrome with frequency of associated complications and outcome data. In order to estimate the frequency of phenotypic abnormalities in Jeune syndrome as precisely as possible, we did not include reports in the literature with incomplete descriptions of the radiologic and clinical findings, nor those reports having additional findings overlapping with other syndromes. We found that the occurrence of renal, hepatic, and ophthalmologic complications is variable; does not correlate with severity of the skeletal phenotype; nor is it predictable even with the presence of a well-defined skeletal phenotype, as in this study. Based upon these cases with Jeune syndrome, renal and hepatic abnormalities occur in approximately 30% of cases, with renal failure occurring in 38% of those with kidney involvement. Eye abnormalities are reported in 15%, but it is unclear whether this represents under-ascertainment. There is a 1.2:1 ratio between living and deceased patients; a respiratory cause of death is most common, occurring almost exclusively in those less than 2 years of age, and a renal etiology accounts for all deaths between the ages of 3-10 years of age. There is a paucity of affected individuals reported in the literature greater than age 20 years, and a lack of longitudinal data to obtain accurate data on morbidity and mortality of Jeune syndrome at older ages. This study provides a well-defined group of patients with Jeune syndrome with delineation of the frequency of associated findings, which may form a basis for current and future genotype-phenotype studies.

show abstract

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

Francomano

Allen

2000

Am. J. Med. Genet.

View full text Add to dashboard Cite

Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression.

show abstract

Renal lesion in Jeune's syndrome

Cited by 34 publications

References 10 publications

Nephronophthisis associated with Ellis-van Creveld syndrome

Nephronophthisis associated with Ellis-van Creveld syndrome

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

Contact Info

Product

Resources

About