Renal hypodysplasia and unilateral ovarian agenesis in the Penta-X syndrome

1980 ◽  
Vol 6 (2) ◽  
pp. 153-162 ◽  
Author(s):  
Tahmouresse Toussi ◽  
Fahed Halal ◽  
Robert Lesage ◽  
Fernand Delorme ◽  
André Bergeron ◽  
...  
Keyword(s):  
Renal Hypodysplasia ◽  
Ovarian Agenesis

scholarly journals PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports

2022 ◽  
Vol 9 ◽  
Author(s):  
Yu-Ming Chang ◽  
Chih-Chia Chen ◽  
Ni-Chung Lee ◽  
Junne-Ming Sung ◽  
Yen-Yin Chou ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Renal Disease ◽  
Case Reports ◽  
Genetic Disorder ◽  
Unknown Etiology ◽  
Related Disorder ◽  
Multiple Systems ◽  
Genetic Sequencing ◽  
Renal Hypodysplasia

Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of PAX2 mutations, the prevalence of PAX2 related disorders may have been underestimated in past studies. With improved genetic sequencing techniques, more genetic abnormalities are being detected than ever before. Here, we report three patients from two families with PAX2 mutations identified within 1 year. Two patients were adults with chronic kidney disease and were followed for decades without correct diagnoses, including one with ESRD who had even undergone kidney transplant. The third patient was a neonate in whom PAX2-related disorder manifested as oligohydramnios, coloboma, and renal failure that progressed to ESRD within 1 year after birth. The phenotypes of PAX2 gene mutation were shown to be highly variable, even within the same family. Early detection promoted genetic counseling and guided clinical management. The appropriate time point for genetic study is an important issue. Clinicians must be more alert for PAX2 mutation when facing patients with congenital kidney and urinary tract anomalies, chronic kidney disease of unknown etiology, involvement of multiple systems, and/or a family history of renal disease.

Endocan levels in children with renal hypodysplasia

2021 ◽  
Author(s):  
Fatma Semsa Cayci ◽  
Zehra Aydin ◽  
Ismail Selcuk Aygar ◽  
Begum Avci ◽  
Mihriban Inozu ◽  
...  
Keyword(s):  
Renal Hypodysplasia

Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-hauser syndrome

2004 ◽  
Vol 81 (3) ◽  
pp. 689-692 ◽  
Author(s):  
Eirini Plevraki ◽  
Marina Kita ◽  
Dimitrios G Goulis ◽  
Hariklia Hatzisevastou-Loukidou ◽  
Alexandros F Lambropoulos ◽  
...  
Keyword(s):  
Specific Protein ◽  
Linked Gene ◽  
Ovarian Agenesis

scholarly journals Ovarian Agenesis or the Pterygium Syndrome

1953 ◽  
Vol 28 (137) ◽  
pp. 8-13 ◽  
Author(s):  
P. Skjelbred
Keyword(s):  
Ovarian Agenesis

FAMILIAL CONGENITAL MUSCULAR DYSTROPHY WITH GONADAL DYSGENESIS

1957 ◽  
Vol 24 (3_Suppl) ◽  
pp. S203 ◽  
Author(s):  
H. H. Bassee
Keyword(s):  
Congenital Muscular Dystrophy ◽  
Clinical Signs ◽  
Testicular Tissue ◽  
Pubic Hair ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Medical Department ◽  
Internal Genitalia ◽  
Embryonic Life ◽  
Ovarian Agenesis

Abstract In the medical department, Hammerfest Hospital, seven individuals in one family were observed, suffering from cataract and generalized weakness in the striated musculature. Five of the patients were under ten years of age. The two eldest ones were sister and brother, 22 and 26 years of age, respectively. The woman could hardly walk even with support. She had clinical signs of ovarian agenesis, increased urinary excretion of gonadotrophic hormones, and high tolerance to insulin. The diagnosis was verified by laparotomy demonstrating thin, white, fibrous ovaries and infantile internal genitalia. The brother could hardly walk, had fairly long extremities, cubitus valgus, and widely separated nipples. The pubic hair presented a feminine appearance and the testicles were infantile and soft. No increase in urinary gonadotrophic hormones were found. The amount of neutral 17-ketosteroids was low and the output of oestrogens increased in urine. The histological examination of testicular tissue showed a thick, fibrous capsule and scanty testicular canals with a few Sertolian cells. Most of the preparation, however, merely consisted of a hyaline substance. In the vascular stroma were seen large heaps of Leydig cells, similar to what is seen in Klinefelter's syndrome. The ovarian agenesis may either have been caused by a virus infection during early embryonic life or be due to heredity. The latter suggestion is supported by the presentation of two sibs with ovarian agenesis and Klinefelter's syndrome.

scholarly journals GDNF promotes tubulogenesis of GFRα1-expressing MDCK cells by Src-mediated phosphorylation of Met receptor tyrosine kinase

2003 ◽  
Vol 161 (1) ◽  
pp. 119-129 ◽  
Author(s):  
Anna Popsueva ◽  
Dmitry Poteryaev ◽  
Elena Arighi ◽  
Xiaojuan Meng ◽  
Alexandre Angers-Loustau ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Receptor Tyrosine Kinase ◽  
Cell Model ◽  
Mdck Cells ◽  
Direct Interaction ◽  
Branching Morphogenesis ◽  
Independent Effect ◽  
Met Receptor ◽  
Met Receptor Tyrosine Kinase ◽  
Renal Hypodysplasia

Glial cell line–derived neurotrophic factor (GDNF) and hepatocyte growth factor (HGF) are multifunctional signaling molecules in embryogenesis. HGF binds to and activates Met receptor tyrosine kinase. The signaling receptor complex for GDNF typically includes both GDNF family receptor α1 (GFRα1) and Ret receptor tyrosine kinase. GDNF can also signal independently of Ret via GFRα1, although the mechanism has remained unclear. We now show that GDNF partially restores ureteric branching morphogenesis in ret-deficient mice with severe renal hypodysplasia. The mechanism of Ret-independent effect of GDNF was therefore studied by the MDCK cell model. In MDCK cells expressing GFRα1 but no Ret, GDNF stimulates branching but not chemotactic migration, whereas both branching and chemotaxis are promoted by GDNF in the cells coexpressing Ret and GFRα1, mimicking HGF/Met responses in wild-type MDCK cells. Indeed, GDNF induces Met phosphorylation in several ret-deficient/GFRα1-positive and GFRα1/Ret-coexpressing cell lines. However, GDNF does not immunoprecipite Met, making a direct interaction between GDNF and Met highly improbable. Met activation is mediated by Src family kinases. The GDNF-induced branching of MDCK cells requires Src activation, whereas the HGF-induced branching does not. Our data show a mechanism for the GDNF-induced branching morphogenesis in non-Ret signaling.

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