Diabetes Insipidus: An Overview and a Case Report

Antidiuretic hormone (ADH, vasporessin) is an octapeptide produced in the nuclei of the anterior hypothalamus. The major source of this homrone is the supraoptic nuclei with minor production taking place in the paraventricular and filiform nuclei

A complicated pregnancy in an adult with HNF4A p.R63W-associated fanconi syndrome

Renal Fanconi syndrome (RFS) is characterised by generalised dysfunction of the proximal renal tubules, resulting in excessive urinary loss of solutes, most notably bicarbonate, and type II (proximal) renal tubular acidosis. It is a rare condition, and literature around its management through pregnancy is limited. We present the management of a 37-year-old woman with RFS secondary to the HNF4A p.R63W mutation, through her third pregnancy. She presented at 28 + 5 weeks with dehydration, low serum bicarbonate, and profound metabolic acidosis. Daily infusions of sodium bicarbonate were necessary, and the requirements increased throughout the pregnancy. She also demonstrated both fasting hypoglycaemia and episodes of postprandial hyperglycaemia which required complex management. Due to concerns around fetal health, an elective caesarean section was performed at 34 weeks, delivering a healthy baby girl. This case highlights the potential complexity of pregnancy in patients with RFS and the need for a multidisciplinary approach to its management

Correlation between plasma solute levels and eGFR.

<p>Dots represent the natural logarithm (LN) of individual concentrations of DMSO2 and 2-HIBA and the lines the best fit linear regression line with the 95% confidence interval.</p

Untargeted mass spectrometry discloses plasma solute levels poorly controlled by hemodialysis

<div><p>Many solutes have been reported to remain at higher plasma levels relative to normal than the standard index solute urea in hemodialysis patients. Untargeted mass spectrometry was employed to compare solute levels in plasma and plasma ultrafiltrate of hemodialysis patients and normal subjects. Quantitative assays were employed to check the accuracy of untargeted results for selected solutes and additional measurements were made in dialysate and urine to estimate solute clearances and production. Comparison of peak areas indicated that many solutes accumulated to high levels in hemodialysis patients, with average peak areas in plasma ultrafiltrate of dialysis patients being more than 100 times greater than those in normals for 123 features. Most of these mass spectrometric features were identified only by their mass values. Untargeted analysis correctly ranked the accumulation of 5 solutes which were quantitatively assayed but tended to overestimate its extent. Mathematical modeling showed that the elevation of plasma levels for these solutes could be accounted for by a low dialytic to native kidney clearance ratio and a high dialytic clearance relative to the volume of the accessible compartment. Numerous solutes accumulate to high levels in hemodialysis patients because dialysis does not replicate the clearance provided by the native kidney. Many of these solutes remain to be chemically identified and their pathogenic potential elucidated.</p></div

Monitoring residual kidney function in haemodialysis patients using timed urine collections: validation of the use of estimated blood results to calculate GFR.

OBJECTIVE: With growing recognition of the benefits of preserving residual kidney function (RKF) and use of incremental treatment regimes, the incentive to measure residual clearance in haemodialysis patients is increasing. Interdialytic urine collections used to monitor RKF in research studies are considered impractical in routine care, partly due to the requirement for blood samples before and after the collection. Plasma solute levels can be estimated if patients are in 'steady state', where urea and creatinine concentrations increase at a constant rate between dialysis sessions and are reduced by a constant ratio at each session. Validation of the steady state assumption would allow development of simplified protocols for urine collections in HD patients. APPROACH: Equations were derived for estimating plasma urea and creatinine at the start or end of the interdialytic interval for patients in steady state. Data collected during the BISTRO study was used to assess the agreement between measured and estimated plasma levels and the effect of using estimated levels on the calculated glomerular filtration rate (GFR). MAIN RESULTS: The mean difference between GFR calculated with estimated plasma levels for the HD session after the collection and a full set of measured levels was 2.0% (95% limits of agreement -10.7% to +14.7%, N = 316). Where plasma levels for the session before the collection were estimated, the mean difference was 1.2% (limits of agreement -10.3% to +7.9%, N = 275). SIGNIFICANCE: Using estimated levels for one session led to a clinically significant difference in the calculated GFR for less than 3% of the collections studied. This indicates that the steady state assumption can be used to estimate solute levels when determining GFR from timed urine collections. A pragmatic approach to monitoring RKF in HD would be for patients to collect for approximately 24 hours before routine bloods are taken