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Pediatrics International (2015) 57, e39–e41

doi: 10.1111/ped.12603

Patient Report

Successful diuretics treatment of protein-losing enteropathy in Noonan syndrome Tatsuki Mizuochi,1 Kenji Suda,1 Yoshitaka Seki,1 Tadahiro Yanagi,1 Hironaga Yoshimoto,1 Yoshiyuki Kudo,1 Motofumi Iemura,1 Ken Tanikawa2 and Toyojiro Matsuishi1 Departments of 1Pediatrics and Child Health and 2Diagnostic Pathology, Kurume University School of Medicine, Kurume, Japan Abstract

There are few reports on successful high-dose spironolactone treatment of refractory protein-losing enteropathy (PLE) caused by Fontan procedure. We report successful diuretics treatment with spironolactone and furosemide at standard dose, of refractory PLE in a patient with Noonan syndrome and repaired congenital heart disease. This is the first successful application of diuretics treatment in a patient with refractory PLE without Fontan procedure. This case illustrates that diuretics treatment can be the first-line treatment of PLE regardless of the causative physiology, and can be effective in refractory PLE with Noonan syndrome.

Key words diuretic, Noonan syndrome, protein-losing enteropathy, venous pressure.

Protein-losing enteropathy (PLE) is a rare condition of gastrointestinal protein loss caused by a variety of diseases. The disorders causing PLE can be divided into two categories: erosive/nonerosive gastrointestinal disease; and increased interstitial pressure such as intestinal lymphangiectasia, congestive heart failure, and Fontan procedure, usually caused by persistently high central venous pressure (CVP) >10 mmHg.1 In particular, intestinal lymphangiectasia or Fontan procedure cause refractory PLE in almost all patients. Also, Noonan syndrome is a congenital genetic disorder that can cause refractory PLE, because it may be complicated by both intestinal lymphangiectasia and congenital heart disease.2 Empirically, PLE caused by Fontan procedure has been treated with systemic corticosteroid, i.v. heparin infusion,1 octreotide,3 and spironolactone,4,5 with limited success. The mechanism of action of these drugs in this setting, however, is not well understood. Here we report the successful treatment of refractory PLE using diuretics, including spironolactone and furosemide, in a patient with Noonan syndrome and repaired congenital heart disease without high CVP.

Case report A girl was diagnosed with congenital heart disease (atrial septal defect and pulmonary stenosis), at 4 months of age. She underwent successful corrective surgery for these congenital heart diseases at 1 year 6 months of age, when she received the diagnosis of Noonan syndrome based on clinical features, and,

Correspondence: Tatsuki Mizuochi, MD PhD, Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan. Email: mizuochi_tatsuki@ kurume-u.ac.jp Received 15 May 2013; revised 9 September 2014; accepted 11 September 2014.

© 2015 Japan Pediatric Society

thereafter, had been well without any sign of congestive heart failure. At the age of 8 years, however, she presented with edema, abdominal pain, diarrhea, and hypoproteinemia: serum total protein, 32 g/L (normal 67–83); albumin, 18 g/L (40–50); and immunoglobulin G, 1.7 g/L (9.2–17.4). She was diagnosed with PLE caused by intestinal lymphangiectasia based on α-1antitrypsin clearance (0.347 L/day; normal, < 0.02), and typical findings of gastrointestinal endoscopy and pathology (Fig. 1). Over the next 4 years, she received high protein and low fat diet and multiple courses of medical treatment such as systemic corticosteroid, i.v. heparin infusion, and octreotide infusion, but failed to achieve sustained remission >6 months. At the age of 12 years, she underwent evaluation of hemodynamics at the catheterization laboratory due to severe pulmonary regurgitation and mild tricuspid regurgitation on echocardiography, although she did not have any sign of congestive heart failure. Cardiac catheterization showed mildly elevated CVP of 9 mmHg and mildly dilated right ventricle without indication of surgical re-intervention. On the assumption that this marginally elevated CVP might be associated with PLE, she was placed on diuretics treatment, 2.5 mg/kg/day spironolactone and 2.0 mg/kg/day furosemide, respectively. Interestingly, the edema, hypoproteinemia, and lymphopenia improved dramatically within 10 days after starting diuretics (Table 1), and since then, she has been well without any sign of PLE for 1 year. At the latest visit, laboratory results were serum total protein, 60 g/L; albumin, 40 g/L; and immunoglobulin G, 5.1 g/L, and follow-up cardiac catheterization showed CVP 4 mmHg with moderate pulmonary regurgitation and mild tricuspid regurgitation (Table 1). There have been no documented side-effects of the diuretics, but, probably due to Noonan syndrome, her height and weight are below the third percentile, and the pubertal Tanner stages for breasts and pubic hair were both I.

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Table 1 Laboratory results after treatment with diuretics for PLE

Total protein (g/L) Albumin (g/L) Immunoglobulin G (g/L) Lymphocytes (/μL) Right atrial pressure (mmHg)

Reference value

Before treatment

67–83 40–50 9.2–17.4 1000–4800

Successful diuretics treatment of protein-losing enteropathy in Noonan syndrome.

There are few reports on successful high-dose spironolactone treatment of refractory protein-losing enteropathy (PLE) caused by Fontan procedure. We r...
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