Publications by authors named "Claire Goursaud"
Article Synopsis
- * A genetic study of a Portuguese family with familial juvenile hyperuricemic nephropathy discovered a large deletion in the UMOD gene linked to both CKD and hyperuricemia/gout, highlighting a new case of ADTKD-UMOD.
- * The study also identified an ultra-rare variant in the SLC8A1 gene, associated with earlier symptom onset, but the deletion's specific pathogenic mechanisms remain unclear and necessitate further investigation.
Article Synopsis
- Genetic testing plays a vital role in diagnosing inherited kidney diseases, as demonstrated by the case of a premature boy with complex tubulopathy who was unexpectedly diagnosed with primary hyperoxaluria type 1 (PH1).
- Despite initial treatments, the patient experienced persistent electrolyte imbalances and progressive kidney issues, prompting comprehensive genetic analysis.
- The identification of mutations in the AGXT gene led to the correct diagnosis, highlighting the importance of thorough genetic evaluations, especially in unusual cases.
Adrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilateral partial orchiectomy as they were suspected for malignancy. These lesions were finally identified as benign testicle adrenal rest tumors (TARTs), and the patient was actually belatedly diagnosed with primary adrenal insufficiency due to 2 mutations of the gene encoding the cholesterol side-chain cleavage enzyme (P450scc); the mutations were 940G > A (p.
View Article and Find Full Text PDFAberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene.
Front Endocrinol (Lausanne)
September 2018
The cholesterol side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. mutations are associated with primary adrenal insufficiency (PAI) as well as disorders of sex development (DSD) in 46,XY patients. To define the pathogenicity mechanism for the p.
View Article and Find Full Text PDFPrimary adrenal insufficiency (PAI) is characterized by impaired production of steroid hormones due to an adrenal cortex defect. This condition incurs a risk of acute insufficiency which may be life-threatening. Today, 80% of pediatric forms of PAI have a genetic origin but 5% have no clear genetic support.
View Article and Find Full Text PDFProgesterone, estrogens, androgens and glucocorticoids are involved in pregnancy from implantation to parturition. Their biosynthesis and their metabolism result from complex pathways involving the fetus, the placenta and the mother. The absence of expression of some steroïdogenic enzymes as CYP17 in placenta and in adrenal fetal zone and the better determination of the onset and variation of others especially HSD3B2 during the pregnancy explain the production of the steroid hormones.
View Article and Find Full Text PDF