P. Soundararajan

Hemodialysis: A therapeutic option for severe attacks of acute intermittent porphyria in developing countries

Acute intermittent prophyria (AIP) is an autosomal dominant disease that results from a defect in the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the most common of hepatic porphyrias and can tax the therapeutic capabilities of the physician to the limit. Motor weakness is a major feature of an acute attack, and flaccid paralysis of all extremities can occur rapidly, within a matter of days. The acute attacks may be life threatening. Hematin (Heme Arginate) should be given early during an acute attack to prevent neurologic sequel. Hemodialysis and hemoperfusion have been tried in the treatment of acute attacks of AIP with success. As hematin is not available in India, a severe acute attack of AIP in a patient was managed with hemodialysis successfully. Later, hematin was imported and provided to the patient. An 18‐year‐old girl was admitted to our hospital with recurrent abdominal pain and 2 episodes of convulsions. She had undergone an appendectomy earlier at another hospital for abdominal pain. On evaluation, she had hyponatremia, episodic abnormal behavior, generalized muscle pain, hypertension, and sinus tachycardia. In view of the above clinical picture, a clinical diagnosis of acute intermittent porphyria was made. Her 24‐hr urinary porphobilinogen was 90.8 mg/day (<2 mg—normal) and α amino levalunic acid was 108.8 mg/day (1–7 mg—normal), consistent with the diagnosis. Her hyponatremia was corrected. Arrangements were made to import hematin and she was managed with dextrose infusion. Meanwhile, she developed flaccid quardriparesis with urinary incontinence and bulbar palsy. Her brain MRI was normal. Her nerve conduction study was suggestive of motor radiculoneuropathy. Specific treatment for severe porphyric crisis was planned. She failed to improve with dextrose infusion alone. As hematin was not readily available in the country, other therapeutic options were considered. As few case reports of AIP being successfully treated with hemodialysis were available, the option of dialytic support was explained to the family. After procuring informed consent, she was subjected to hemodialysis for 4 hr in the first day, increasing to 6 hr a day for the next 6 days. Her abdominal pain and myalgia subsided on the third day of dialysis. Her lower limb muscle power improved and she became ambulant by the fourth day. Urinary retention improved within 4 days. Hematin was imported by then from the United States. Later, 2 doses of hematin (4 mg/kg–160 mg in 20% albumin) were given via a central vein. She was maintained on physiotherapy. Repeat nerve conduction study revealed recovery. She has been provided with a list of drugs that have to be avoided. Currently, she is on outpatient follow‐up with occasional abdominal pain, which subsides with intravenous dextrose therapy.

Parathyroid hormone and biochemical profile in chronic kidney disease patients in South India

Renal osteodystrophy is an important complication of chronic kidney disease characterized by abnormal bone turnover with varied bone histologic changes. Etiology is multifactorial including abnormalities of serum calcium, phosphorus, and 1,25(OH)2‐vitamin D deficiency; secondary hyperparathyroidism; age; cause of kidney disease; diet; renal replacement therapy; and drug therapy. In addition, there is evidence that there may be ethnic differences. Our study is a description of a case series of hormonal and biochemical abnormalities of bone disease in end‐stage renal disease patients in South India. A total of 115 patients were studied; 86% were on hemodialysis and 14% were on peritoneal dialysis (age, 47.31 ± 14.66 years). Sixty‐eight% were men. Diabetes was the cause of end‐stage renal disease in 29.5%. Intact parathyroid hormone (PTH) level was 124.6 ± 174.9 pg/mL and less than twice normal in 69.5% of patients. Hypocalcemia was present in 16.5% and hyperphosphatemia in 35.7% of patients. Empirical vitamin D was prescribed in 40% of patients. Age, sex, diabetic status, and vitamin D use were similar in patients with high PTH (130 pg/mL) and low PTH levels (< 130 pg/mL). Bone histologic studies were not performed owing to economic limitation. But the biochemical and hormonal results are suggestive of a mild form of osteodystrophy in Indian patients. Etiology remains uncertain but differences in dietary intake, tropical climate, vitamin D activation, vitamin D receptor polymorphism, parathyroid gland sensitivity, and PTH target organ sensitivity may account for the difference in pattern in bone disease.

Peritoneal Dialysis in a Patient with Neurogenic Bladder and Chronic Kidney Disease with Ventriculoperitoneal Shunt

Long-term dialysis in children with multiple handicaps has become easier with the advent of continuous ambulatory peritoneal dialysis (PD). Due to the widespread use of PD and the long survival of patients with spina bifida, an increasing number of patients with spina bifida are on PD. The viability and safety of PD in spina bifida patients with a ventriculoperitoneal shunt (VPS) have been a matter of concern. Some authors consider the presence of a VPS a relative contraindication for PD, but more recent reports suggest that PD under close monitoring is not contraindicated. We report a 17-year-old girl born with meningomyelocele, hydrocephalus and neurogenic bladder who was maintained on VPS. She reached end-stage renal failure 17 years later and was put on PD based on family and patient preference. She had an uneventful course in the initial 9 months, but later developed fungal peritonitis which was successfully managed with catheter withdrawal and an intravenous antifungal agent (amphotercin 0.75 mg/kg). Simultaneous ventricle-aspirated cerebrospinal fluid was sterile. To our knowledge, this is the first report of fungal infection in such a patient. Although we share the view that PD is not an absolute contraindication in patients with a functioning VPS, its likely complications, especially infectious complications in developing countries, should be kept in mind before initiating PD in such patients.