Publications by authors named "P Goodyer"
Article Synopsis
- The study aimed to evaluate the most reliable evidence for managing X-linked hypophosphatemia (XLH) in adults to help shape treatment recommendations.
- After reviewing over 4,000 records, only one clinical trial and two observational studies met the criteria, showing that burosumab likely helps with pain from fractures but has a limited effect on other symptoms like fatigue and stiffness.
- There are currently no strong comparisons between burosumab and conventional treatments, highlighting a significant gap in data regarding their long-term effectiveness on important patient outcomes.
Background: Primary ciliopathies are a heterogeneous group of rare disorders predominantly caused by autosomal-recessive genetic variants that disrupt non-motile ciliary function. They often manifest as a syndromic phenotype, frequently involving the kidney. Biallelic pathogenic variants in C2CD3 disrupt ciliogenesis and Sonic Hedgehog (SHH) signaling, resulting in a severe ciliopathy (Orofaciodigital syndrome XIV, OMIM 615948).
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- Biallelic pathogenic variants in the CC2D2A gene are linked to ciliopathies like Joubert and Meckel syndrome, which commonly affect kidney function, but isolated cases of kidney disease such as nephronophthisis had not been documented prior to this study.* -
- An adult presenting symptoms of nephronophthisis was found to have a rare homozygous nonsense variant in the CC2D2A gene, specifically c.100 C > T, which impacts kidney-specific transcripts but not those in other affected tissues like the cerebellum or liver.* -
- Analysis revealed that this variant may allow for partial translation re-initiation, suggesting a potential escape from normal decay
Article Synopsis
- The kidneys' tubular system includes several units that control tubular fluid as it moves through the nephron, managing water balance, electrolytes, acid-base levels, and waste elimination.
- Disorders affecting kidney tubules can lead to serious health issues in both children and adults, each experiencing different diseases and symptoms.
- The article discusses various tubulopathies, emphasizing the need for collaboration between pediatric and adult nephrologists due to age-related differences in symptoms and conditions.