Israel Medical Association Journal

A 55-year-old male with a history of Dubin-Johnson syndrome (DJS), obesity, and smoking presented to the emergency department with generalized weakness and jaundice. On admission, he was hypotensive (blood pressure 87/56 mmHg), and profound jaundice was noted. Laboratory investigations revealed severe acute kidney injury with a creatinine level of 5.53 mg/dl and blood urea nitrogen of 92 mg/dl. Liver function tests were mildly elevated, and his lipid profile was within normal limits. Total bilirubin was markedly elevated at 52.5 mg/dl, predominantly direct (40.9 mg/dl). The patient was anuric at the time of catheter insertion.

A non-contrast abdominal computed tomography scan showed normal kidney size and appearance without hydronephrosis. The liver was normal size with sharp borders. The patient was treated with intravenous fluids, inotropic support, and intravenous antibiotics. Despite these interventions, he remained anuric with worsening hyperkalemia, necessitating urgent hemodialysis.

Within 10 minutes of initiating hemodialysis, a yellowish discoloration appeared in the effluent tubing of the dialysate. Simultaneously, the dialyzer fibers, which are typically pinkish in color, began to develop a yellowish tint. By the end of the session, the dialyzer appeared distinctly yellow, likely due to bilirubin deposition [Figure 1A–1C].

Hypokalemia is a frequently encountered electrolyte disturbance, particularly among hospitalized patients. It often arises from increased potassium excretion (via the kidney or gastrointestinal tract) or intracellular shifts [1]. Hypokalemic periodic paralysis (HPP) is an uncommon cause of hypokalemia, with the most common reported mutation found in the dihydropyridine-sensitive calcium channel in skeletal muscles (CACNA1S gene) [2]. We present a case of a young woman with HPP associated with a novel mutation in the chloride voltage-gated channel 1 (CLCN1) gene.

Background: Down syndrome is one of the most common chromosomal abnormalities. Children and adults with DS[1] have significant medical problems and require life-long medical follow-up.

Objectives: To determine the adequacy of medical surveillance of individuals with DS as recommended by the American Academy of Pediatrics.

Methods: The study was conducted at a multidisciplinary center specializing in the care of DS during the period 2004–2006. At their first visit to the Center, caregivers of individuals with DS were questioned about the medical status of their child including previous evaluations. Medical records brought in by the parents were reviewed.

Results: The caregivers of 150 individuals with DS (age ranging from newborn to 48 years old, median age 5 years) were interviewed and medical records were reviewed. The prevalence of specific medical problems differed between our population and the reported prevalence from other surveys. For example, 39.3% of our population had documented auditory deficits while the reported prevalence is 75%. For gastrointestinal and thyroid disease, the prevalence was higher in the studied population than that reported in the literature. In terms of compliance with the AAP[2] recommendations, most children (94%) underwent echocardiography, but only 42.7% and 63.3% had been tested for auditory or visual acuity respectively. Only 36.3% over the age of 3 years had cervical spine films.
Discussion: Many individuals with DS are not receiving appropriate medical follow-up and the implications of inadequate surveillance can be serious