Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive renal tubular disorder characterized by renal magnesium wasting, hypercalciuria, advanced nephrocalcinosis and progressive renal failure. Mutations in the paracellin-1 (CLDN16) gene have been defined as the underlying genetic defect. The tubular disorders and progression in renal failure are usually resistant to magnesium substitution and hydrochlorothiazide therapy, but hypomagnesemia may improve with advanced renal insufficiency. We present a patient with a homozygous truncating CLDN16 gene mutation (W237X) who had early onset of renal insufficiency despite early diagnosis at 2 months. He also had additional abnormalities including horseshoe kidney, neonatal teeth, atypical face, cardiac abnormalities including coarctation of the aorta associated with atrial and ventricular septal defects, umbilical hernia and hypertrichosis. To the best of our knowledge, this is the youngest case diagnosed as familial hypomagnesemia with hypercalciuria and nephrocalcinosis and the first case having such additional congenital abnormalities independent of the disease itself.
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PMID:Paracellin-1 gene mutation with multiple congenital abnormalities. 1692 49

Whereas interstitial hernias of infancy are a result of congenital abnormalities, those in adults have been blamed on anatomical banding. Many of the latter are associated with systemic, genetic, or acquired connective tissue disease, however. This results in attenuated aponeuroses, ruptured tendons, and atrophied fascia from collagen malformation and destruction. Muscle contractility is compromised by loss of connective tissue septae, reducing capillary density. The result is wasting and disaggregation, which explains interstitial defects filled with herniated extraperitoneal fat, which account for 1% of primary inguinal herniae. These were originally described in the transversus and internal oblique musculature by Hessert (Surg Gyn Obstet 16:566-568, 1913). Similar slits are seen with Spigelian herniae, all of which are interstitial. This hypothesis, if proven, would imply treatment of the pervasive co-morbidity with the protrusions.
Hernia 2007 Feb
PMID:Co-morbidity and interstitial herniation in the adult: an hypothesis. 1724 49