ABSTRACT
BACKGROUND: This case report presents a history of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The patient was admitted to the hospital with hypertensive encephalopathy. FHHNC is a rare autosomal recessive disease caused by mutations in CLDN16 or CLDN19, resulting in insufficient magnesium and calcium kidney reabsorption. FHHNC manifestation starts in childhood, and over the years, its development leads to nephrocalcinosis and, consequently, chronic kidney disease (CKD), which is not slowed by routine administration of magnesium and thiazide diuretics. Ultimately, all FHHNC patients need kidney replacement therapy (KRT). CASE PRESENTATION: The patient was a 28-year-old male diagnosed with FHHNC and admitted to the emergency room due to hypertensive encephalopathy. The current situation was the patient's second hospitalization related to a hypertensive emergency caused by under-dialysis. Despite the signs of insufficient functioning of peritoneal dialysis (PD) (the primary chosen form of KRT), the patient refused the proposed conversion to hemodialysis (HD). Symptoms observed upon admission included disorientation, anxiety, and severe hypertension, reaching 213/123 mmHg. Due to his clinical condition, the patient was transferred to the intensive care unit (ICU), where the introduction of continuous veno-venous hemodiafiltration and hypotensive therapy stabilized blood pressure. Within the next few days, his state improved, followed by discharge from ICU. Eventually, the patient agreed to transition from PD to in-center HD. At the time, he was qualified for kidney transplantation, waiting for a compatible donation. CKD and dialysis are factors that significantly affect a patient's quality of life, especially in young patients with congenital diseases like FHHNC. CONCLUSIONS: For the aforementioned reasons, appropriate education and psychological support should be ensured to avoid the harmful effects of therapy non-compliance. Graphical Abstract: https://www.europeanreview.org/wp/wp-content/uploads/Graphical-abstract-1.pdf.
Subject(s)
Hypercalciuria , Hypertension , Nephrocalcinosis , Humans , Male , Adult , Nephrocalcinosis/therapy , Nephrocalcinosis/diagnosis , Hypercalciuria/therapy , Hypercalciuria/diagnosis , Renal Dialysis , Renal Tubular Transport, Inborn Errors/genetics , Renal Tubular Transport, Inborn Errors/therapy , Renal Tubular Transport, Inborn Errors/diagnosis , Hypertensive CrisisABSTRACT
We report an observation of the decay B{0}-->D{*-}tau{+}nu{tau} in a data sample containing 535x10{6} BB pairs collected with the Belle detector at the KEKB asymmetric-energy e{+}e{-} collider. We find a signal with a significance of 5.2sigma and measure the branching fraction B(B{0}-->D{*-}tau{+}nu{tau})=(2.02{-0.37}{+0.40}(stat)+/-0.37(syst))%. This is the first observation of an exclusive B decay with a b-->ctaunu{tau} transition.
ABSTRACT
Very high arylsulphatase activity has been detected in rat kidney. It is the highest in renal cortex (19 U/g tissue), 3-30 times higher than in other rat organs. Histochemically, arylsulphatase B (N-acetylgalactosamine-4-sulphate sulphatase) activity is localized in large lysosomes of proximal convoluted tubules, where it accounts for over 90% of total arylsulphatase activity. This suggests that the enzyme plays an important role in the degradation of endocytosed sulphated oligosaccharides.
