Senior-Loken Syndrome (Nephronophthisis and Pigmentary Retinopathy) Associated to Liver Fibrosis: A Family Study

Fernández-Rodríguez, Raquel; Morales, J.M.; Martínez, Rafael Grillo; Lizasoaín, Manuel; Colina, Francisco; Martínez, María-Aránzazu; Praga, Manuel; Prieto, C; Rodicio, José L.

doi:10.1159/000185922

Cited by 15 publications

(4 citation statements)

References 9 publications

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“…Another malformation syndrome, consisting of CVH, colobomas, hepatic fibrosis, and occasionally, renal cystic diseases, has been described under the name of COACH syndrome [Verloes and Lambotte, 1989; Weisner et al, 1992]. Furthermore, it is known that familial NPH, a group of renal cystic diseases, which constitutes the most frequent genetic cause of ESRD in children and young adults in European countries, can be associated with extrarenal organ involvement, such as retinitis pigmentosa (Senior‐Löken syndrome) [Otto et al, 2002; Olbrich et al, 2003], liver fibrosis [Fernandez‐Rodriguez et al, 1990; Olbrich et al, 2003], and neurological problems including ocular motor apraxia, ataxia, psychomotor retardation and CVH [Saunier et al, 1997b; Betz et al, 2000; Hildebrandt and Omram, 2001; Takano et al, 2003]. There is considerable overlap between these syndromes, all of which are inherited as autosomal recessive traits, and the strict classification criteria has not been established.…”

Section: Discussionmentioning

confidence: 99%

Fabrication and evaluation of a new composite composed of tricalcium phosphate, gelatin, and Chinese medicine as a bone substitute

Yao¹,

Tsai

Chen

et al. 2005

J Biomed Mater Res

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This study investigates the biological effects of traditional Chinese medicines on the activities of bone cells using rat bone cells. Then, a mixture of a GGT composite, that is, a novel biodegradable composite containing genipin crosslinked gelatin and tricalcium phosphate, and traditional Chinese medicine (TCM) was prepared as a GGT-TCM composite. A cultured neonatal rat calvarias organ was used to measure the potential of GGT-TCM composite for use in promoting the regeneration of defective bone tissue. The mitochondria activity of the bone cells following exposure to various concentrations of crude extracts of five herbal Chinese medicines was measured by colorimetric assay. Biochemical markers, such as alkaline phosphatase (ALP) and tartrate-resistant acid phosphatase (TRAP) titers were analyzed to evaluate the activities of bone cells. Finally, we examined the organ culture units, which were maintained in cultured medium for 5 weeks. Morphology of tissue was observed, and the quantitative evaluation of the regenerated bone was determined. In a bone cells culture experiment, adding Cuscuta chinensis Lam. (TCM-5) to the bone cells culture clearly promoted the proliferation and differentiation of the osteoblasts from their precursor cells; but the reduced amount of TRAP indicated that the medicine significantly inhibited the osteoclasts activities. Opposite bone cell responses were observed when Loranthus parasiticus Merr. (TCM-3) and Achyranthes bidentata Bl. (TCM-4) were added to the bone cells culture. Eucommia ulmoides Oliv. (TCM-1) and Dipsacus asper Wall. (TCM-2) potentially influence the proliferation and differentiation of the osteoblasts from their precursor cells, but they did not affect the osteoclasts activities. The finding from the organ culture indicated that Chinese medicine effectively increased the rate of tissue regeneration of damaged bones.

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Section: Discussionmentioning

confidence: 99%

Fabrication and evaluation of a new composite composed of tricalcium phosphate, gelatin, and Chinese medicine as a bone substitute

Yao¹,

Tsai

Chen

et al. 2005

J Biomed Mater Res

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Section: Discussionmentioning

confidence: 99%

Renal disease in Arima syndrome is nephronophthisis as in other Joubert‐related Cerebello–oculo–renal syndromes

Kumada

Hayashi

Arima

et al. 2004

American J of Med Genetics Pt A

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Clinicopathological features of the renal disease in Arima syndrome were studied in five autopsy cases. All cases showed insidious development of end-stage renal disease during childhood, preceded by polyuria/polydipsia, anemia, and growth failure. Decreased urinary concentrating ability and excessive sodium loss were the characteristic laboratory findings. Gross examination showed that both kidneys were small and showed multiple cysts of various sizes. The histological examinations revealed chronic sclerosing tubulo-interstitial nephropathy with cystic tubuli predominantly located at cortico-medullary areas. These observations suggest that the renal disease in Arima syndrome is in accordance with nephronophthisis both clinically and pathologically. Contrary to the previous literature which described that Arima syndrome can be distinguished from other Joubert-related cerebello-oculo-renal syndromes by its unique renal disease, i.e., cystic dysplastic kidney (CDK), our study indicates that the phenotype of the renal disease is common among these syndromes as well as abnormalities in other organs, suggesting the underlying similar molecular mechanisms.

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“…Senior-Loken syndrome and Refsum syndrome Both are very rare entities. The Senior-Loken syndrome features retinal degenerations (about 50 %) and kidney failure [2,4]. The only case observed showed combined cone and rod disease, nearly extinguished ERG recordings and marked degenerative changes.…”

Section: Batten's Diseasementioning

confidence: 99%

Syndromic Retinitis Pigmentosa: ERG and Phenotypic Changes

Fleischhauer¹,

Njoh²,

Niemeyer³

2005

Klin Monatsbl Augenheilkd

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Senior-Loken Syndrome (Nephronophthisis and Pigmentary Retinopathy) Associated to Liver Fibrosis: A Family Study

Cited by 15 publications

References 9 publications

Fabrication and evaluation of a new composite composed of tricalcium phosphate, gelatin, and Chinese medicine as a bone substitute

Fabrication and evaluation of a new composite composed of tricalcium phosphate, gelatin, and Chinese medicine as a bone substitute

Renal disease in Arima syndrome is nephronophthisis as in other Joubert‐related Cerebello–oculo–renal syndromes

Syndromic Retinitis Pigmentosa: ERG and Phenotypic Changes

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