PubMed · 16774058
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Atsushi Fukatsu, Noriyuki Iehara, Yoshinori Tanaka. 2006-05-10. [hypophosphatemia and hyperphosphatemia].. https://doi.org/10.2169/naika.95.840
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We report a 5-year-old girl with idiopathic hypercalciuria who developed gross hematuria and left flank pain despite normalization of calciuria, a renal stone, and microscopic hematuria. She was found to have nutcracker syndrome by renal Doppler ultrasound, which revealed the significant differences of the peak blood flow velocities in the two portions of the left renal vein.
The calcium-sensing receptor (CASR) adjusts the extracellular calcium set point regulating PTH secretion and renal calcium excretion. The receptor is expressed in several tissues and is also involved in other cellular functions such as proliferation, differentiation and other hormonal secretion. High extracellular calcium levels activate the receptor resulting in modulation of several signaling pathways depending on the target tissues. Mutations in the CASR gene can result in gain or loss of receptor function. Gain of function mutations are associated to Autossomal dominant hypocalcemia and Bartter syndrome type V, while loss of function mutations are associated to Familial hypocalciuric hypercalcemia and Neonatal severe hyperparathyroidism. More than one hundred mutations were described in this gene. In addition to calcium, the receptor also interacts with several ions and polyamines. The CASR is a potential therapeutic target to treatment of diseases including hyperparathyroidism and osteoporosis, since its interaction with pharmacological compounds results in modulation of PTH secretion.
Changes in mineral and bone metabolism are prevalent in chronic kidney disease. There are several types of renal bone disease, called 'renal osteodystrophy (ROD)'. ROD includes osteitis fibrosa, osteomalacia, adynamic bone disorder, and mixed osteodystrophy. Osteitis fibrosa is high turnover bone due to secondary hyperparathyroidism. Osteomalacia is low turnover bone concomitant of increased osteoid. Adynamic bone disorder is low turnover bone due to excessive suppression of the parathyroid glands and recently represents the major bone lesion in dialysis patients. More recently, the term 'Chronic Kidney Disease-Mineral and Bone Disorder(CKD-MBD)' was proposed to describe the clinical syndrome that develops as a systemic disorder of mineral and bone metabolism due to chronic kidney disease such as vascular calcification.