Recurrence of primary hyperoxaluria: an avoidable catastrophe following kidney transplant.

Primary hyperoxaluria is a rare autosomal recessive disease due to deficiency of an oxalate-metabolizing liver enzyme, which results in nephrolithiasis and renal failure. Concomitant liver and kidney transplant is recommended as isolated kidney transplant is inevitably complicated by recurrence of the disease. We present a 25-year-old man with end-stage nephrolithiatic renal disease who underwent bilateral nephrectomy, followed by kidney transplantation. There was progressive worsening of kidney function two weeks post transplant. Review of nephrectomy and transplant kidney biopsy showed abundant calcium oxalate crystals and further workup revealed hyperoxaluria, which was previously unsuspected. Later he developed fever, breathlessness, hemiparesis and died 10 weeks after transplant. Autopsy revealed multi-organ deposits of oxalate crystals as well as widespread zygomycosis. This case emphasizes the need for careful pre-transplant evaluation of patients with renal calculus disease in order to exclude primary hyperoxaluria.

Celiac disease in osteoporotic Indians.

OBJECTIVE: 1) The aim of the study was to identify the atypical celiac disease (CD) in a cohort of symptomatic osteoporotic patients, younger than 55 years of age and 2) To study associated clinical and laboratory features and outcome with gluten-free diet. MATERIAL AND METHODS: We studied 33 patients (F:M = 28:5), mean age 29 years (range 15-52 years) with osteoporosis (WHO diagnostic criteria, T-score less than -2.5 on DEXA scan) from January 2000 - June 2002. Serological screening for CD was done by detecting circulating IgA antibodies to tissue transglutaminase by ELISA. Patients with presence of antibodies to transglutaminase were subjected to biopsy from the 2nd part of the duodenum by upper GI endoscopy. The biopsies were reported independently by two pathologists who were blinded for the serology report. Measurement of mucosal thickness, crypts and villi were done with an ocular micrometer. Other parameters like complete hemogram, serum iron, total iron binding capacity (TIBC), calcium profile, 25-OH-D, parathyroid hormone (PTH) were evaluated. Assessment of clinical and laboratory parameters was performed within 4-12 weeks of starting gluten-free diet (GFD). RESULTS: Thirteen patients had circulating IgA antibodies to transglutaminase. Intestinal biopsies were performed on 11 patients and were consistent with the diagnosis of CD (total villous atrophy--two, subtotal villous atrophy with crypt hyperplasia--nine). Patients with CD had significant anaemia when compared with non-CD osteoporotic patients. Other important observations in these 11 patients were low serum calcium and phosphorus, low 25-OH-D, high PTH. Significant improvement in clinical and laboratory parameters was noted in all patients within 6-12 weeks of starting GFD. CONCLUSION: Symptomatic osteoporotic patients (younger than 55 years of age) especially with associated anaemia should be investigated for CD. Simple measures like omission of wheat from diet (GFD) lead to significant improvement in symptoms within weeks.

Quadriplegia complicating ossification of the posterior longitudinal ligament.

We report a case of quadriplegia complicating ossification of posterior longitudinal ligament (OPLL) in a patient who was also found to have diffuse idiopathic skeletal hyperostosis (DISH). She also had osteomalacia (Vit. D deficiency) with secondary hyperparathyroidism. There could be a cause and effect relationship between the abnormal biochemistry and OPLL.

Plasmapheresis: an adjunct therapy in severe progressive neuropsychiatric lupus.

OBJECTIVE: We report our experience with use of plasmapheresis (PP) as an adjunct therapy in severe progressive neuropsychiatric systemic lupus erythematosus (NPSLE). METHOD: Three patients of NPSLE (including 2 with status epilepticus) who were progressively worsening on steroids or combination of pulse cyclophosphamide (CPM) and steroids were treated with PP followed by synchronized CPM. Pre and post treatment SLE Disease Activity Index (SLEDAI) and laboratory tests were carried out. RESULTS: Significant clinical improvement with decrease in SLEDAI occurred immediately following PP. Mean SLEDAI before and after PP were 33 and 11. Mean erythrocyte sedimentation rate decreased from 121 to 31. Rebound flare of disease activity noted in two patients between 7th-10th day requiring additional immunosuppressants or steroids. CONCLUSIONS: PP used as an adjunct therapy in severe, progressive NPSLE is well tolerated and can turn the patient around. PP should be followed by synchronized pulse CPM to prevent disease flare.

Angiosarcoma of the heart presenting as recurrent cardiac tamponade.

We present an interesting case of angiosarcoma of the heart presenting as recurrent percardial effusion and cardiac tamponade.

Rhabdomyolysis and acute renal failure following a single dose of succinylcholine.

A 30-year old with rhabdomyolysis and acute renal failure is presented. The attack followed a minor operation under general anaesthesia during which succinylcholine was administered as muscle relaxant. The fasciculations which occurred immediately after injection of succinylcholine may possibly have precipitated rhabdomyolysis.

Boerhaaves' syndrome.

A 47 year old male with Boerhaaves' syndrome is described. A brief review of the literature is also presented.