Acute Intermittent Porphyria

• DOI: 10.4103/0366-6999.160621
• Publication Date: 2015-07-10T10:30:43Z
• Authors: Tao Yuan; Yu-Hui Li; Xi Wang; Feng-Ying Gong; Xue-Yan Wu; Yong Fu; Wei-Gang Zhao
• Keywords: Porphobilinogen deaminase; Irritability; Porphobilinogen

INTRODUCTION Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism caused by deficiency porphobilinogen (PBG) deaminase, also known as hydroxymethylbilane synthase (HMBS), the third enzyme in heme biosynthetic pathway. The clinical features AIP are attributed to depletion and accumulation intermediates PBG aminolevulinic acid (ALA), proximal defect.[1] Multiple organ systems can be affected patients with AIP. typical attacks characterized gastrointestinal symptoms, sympathetic overactivity, neurologic manifestations, psychological symptoms. Most suffered from symptoms were adult females. We reported male patient diagnosed finding a mutation HMBS gene after recurrent abdominal pain for 10 years. CASE REPORT A 45-year-old was hospitalized Endocrinology Department because "recurrent years" November 2013. He experienced lower abdomen pain, nausea, vomiting, constipation years ago. operated "intestinal obstruction", but reason intestinal obstruction not known. In next decade, there several similar first onset usually induced eating lot food easily been digested or drinking alcohol. treated supportive treatment every time. February 2012, he urinary retention obstruction, irritability, hallucinations delirium, limbs muscle weakness, hyponatremia. After supplement sodium, delirium disappeared. September 2013, had vomit, serum potassium normal, sodium 119.7 mmol/L, chloride 87.3 mmol/L. subsequently developed dark-colored urine without excretion stone, fatigue, sleepiness, illusion. increased (the 257.09 mmol/24 h) at same Chest computed tomography scan normal. Electromyography showed nerve conduction velocity right nervus peroneus communis decreased. restriction intake water oral. Serum gradually returned smoked drunk 20 There no family history. Physical examination revealed normal vital signs. attack neurological when admitted our hospital. electrolytes analysis, plasma hormone levels thyroxine cortical all range. patient's raised possibility collected dark-yellow color urinated hospital although turned dark-red 2 h sunshine. Random positive. Genomic DNA extracted peripheral white blood cells, 15 exons amplified. Sequencing positive missense G>A exon 9 HMBS, R173Q (CM900131) confirming diagnosis targeted testing recommended children patients. DISCUSSION overall prevalence clinically manifest estimated 50–500/million. disease manifests typically women their second through fourth decades life. often linked menstrual cycles, highlighting importance endogenous steroids, especially progesterone, pathogenesis.[2] most common presenting severe diarrhea, constipation. Neurologic may develop, including flaccid paralysis, seizures, neuropsychiatric such incontinence Many report passing red brown that darken exposed air, light warmth. Such findings should alert clinicians consider acute porphyria. Hyponatremia electrolyte abnormality occurs during attacks. Factors contribute hyponatremia include syndrome inappropriate antidiuretic secretion, vomiting resuscitation high volumes dextrose solutions given intravenously.[3] Our attacks, unknown It means those reasons, we rare diseases has urine. precipitated conditions increase hepatic synthesis medications, stress, starvation, illness, infection, surgery, smoking, trigger factor smoking alcohol patient. ALA analysis aid genetic counseling so asymptomatic members who carriers identified. allows early appropriate management order avoid minimize complications. Until, more than 385 different mutations have reported. phenotype-genotype relationships literature. gene, which other literatures.[45] For therapy AIP, carbohydrate (at least 300 g/d), fasting. Patients nausea and/or will need receive intravenously, fluid requirement vary Thus, it frequently monitor electrolytes. Changes rate type intravenous administered made based on values.[2] conclusion, extremely among men. this case emphasize presentations concomitant underlying disorders imbalance (especially hyponatremia) confound diagnosis.