A 6.5 yr old girl was admitted with a category of clinical signs and symptoms including recurrent gross hematuria, ab-dominal pain, and fever. After different examinations including genetic analysis, the disease was diagnosed as Familial Mediterranean fever (FMF). It is suggested to consider FMF as a rare cause of recurrent gross hematuria, which is re-sponsive to colchicine treatment. Â© 2015, Iranian Journal of Public Health. All rights reserved

Nickavar, A.

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     Iran J Public Health, Vol. 44, No.8, Aug 2015, pp.1143-1145                                                    Case Report 1143                                                                                                      Available at:    http://ijph.tums.ac.ir   Recurrent Macroscopic Hematuria and Abdominal Pain:  Questions and Answers  Azar NICKAVAR  Aliasghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran  *Corresponding Author: Email: anickavar@yahoo.com  (Received 11 Nov 2014; accepted 22 Feb 2015)    Case history  A 6.5 yr old girl was admitted at Aliasghar Chil-dren’s Hospital, Tehran, Iran in 2014 with a his-tory of recurrent gross hematuria, abdominal pain and fever. Hematuria was independent to respira-tory tract infections or gastrointestinal disorders. She had no history of edema and oliguria. Family history was unremarkable for any renal or sys-temic disorders. On admission, physical examina-tion and vital signs were normal.  Laboratory examination showed normal complete blood count, serum biochemistry, coagulation and serologic tests including C3, C4, CH50, ANA, anti DNA, anti GBM antibody, CANCA and PANCA. Increased ESR (75ml/h) was the only abnormal hematologic test (Table 1).  Urinalysis showed isolated hematuria (RBC: 30-35/HPF) without proteinuria. Urine culture and schistosomiasis screening were negative. Measure-ment of urine crystals were in normal limits. Urinary tract ultrasonography was normal. Neph-rolithiasis and nutcracker syndrome were excluded by abdominal triphasic spiral CT scan.  Table 1: Laboratory findings of the patient  Variables Results WBC  6000  HgB (g/dl)  12  PLT 331000  ESR (mm/h) 75  PT 13 PTT  40 C3 82.3 C4 12.1 CH50 104 IgM 2.07 IgG 8.4 IgA 0.64 IgE 27.18 LDH  874 Urine RBC/HPF 30-35 Urine protein (mg/24h) 50 Urine calcium (mg/24h) 27 Urine oxalate (mg/24h)  0.32 Abstract A 6.5 yr old girl was admitted with a category of clinical signs and symptoms including recurrent gross hematuria, ab-dominal pain, and fever. After different examinations including genetic analysis, the disease was diagnosed as Familial Mediterranean fever (FMF). It is suggested to consider FMF as a rare cause of recurrent gross hematuria, which is re-sponsive to colchicine treatment.  Keywords: Familial Mediterranean fever, Hematuria, Fever, Pain, Iran    Nickavar: Recurrent Macroscopic Hematuria and Abdominal … Available at:    http://ijph.tums.ac.ir  1144 Audiometry (including high frequency impedence), retinoscopy and endoscopy showed no significant abnormalities. Psychological consult was normal. Renal biopsy was normal with no immunofluores-cence deposition. A diagnostic test was performed. Questions 1- What is the diagnosis? 2- What is the diagnostic test?  Answers Question 1: Familial Mediterranean fever Question 2: Mutation analysis is the most specific diagnostic test in Familial Mediterranean fever, showed MEFV gene mutation. However, treat-ment response to colchicin is considered another diagnostic and therapeutic option.   Discussion  The patient was a young girl with unexplained re-current macroscopic hematuria. Totally, macro-scopic hematuria originates from glomerular (IgA nephropathy, Alports syndrome, benign familial hematuria, poststreptococcal glomerulonephritis (GN), membranoproliferative GN , systemic lu-pus erhytematosus, membranous nephropathy, rapidly progressive GN, Henoch schonlein pur-pura, and goodpasture disease), tubulointerstitial (acute pyelonephritis, acute interstitital nephritis, tuberculosis, hematologic diseases) and urinary tract disorders (bacterial or viral infections, neph-rolithiasis, crystaluria, structural or congenital anomalies, polycystic kidney disease, trauma, tu-mors, exercise, and medications (1). Renal biopsy was not in favor of the above disorders.  The patient had a history of abdominal pain and occasional fever coincidental or independent to gross hematuria, which reminds to syndromes with recurrent fever including familial Mediterra-nean fever (FMF). Therefore, colchicin was start-ed and the patient had a characteristic response to treatment. Fever and abdominal pain subsided in less than 3 days with no episode of gross hematu-ria during the follow up period. Screening for FMF with mutation analysis showed R202Q mu-tation in favor of FMF.  Familial Mediterranean fever is an autosomal recessive disorder, characterized by recurrent fever and polyserositis (peritonitis, pleuritis, pericarditis, and arthritis) (2). It is caused by more than 30 point mutations in the MEFV gene. Diagnosis confirms by clinical manifestations, and mutation analysis in 60% of patients (3). Transient increase of acute phase reactants (CRP, ESR, fibrinogen levels, platelets) may occur during FMF attacks, usually returns to normal or continues in 2/3 during asymptomatic period (2,3,4,).  Renal involvement usually occurs in the form of AA amyloidosis with proteinuria, nephrotic syn-drome and chronic renal failure (2, 5). Other man-ifestations including transient or persistent micro-scopic hematuria and/or albuminuria, recurrent pyelonephritis, FMF-related GN, acute poststrep-tococcal GN, IgM nephropathy, IgA nephropathy, crescentic GN, focal proliferative GN, diffuse proliferative GN, focal glomerulitis, focal glomer-ulosclerosis, minimal change disease, membranop-roliferative GN and chronic GN have been re-ported in FMF (3, 6, 7), with an appropriate prog-nosis and renal survival. Approximately 5% of patients with FMF have been reported with HSP and 1% with polyarteritis nodosa (2).  Our patient had FMF with a very uncommon manifestation of isolated recurrent macroscopic hematuria, irrespective to acute or chronic GN or vasculitis. Therefore, it is suggested to consider FMF as a rare cause of recurrent gross hematuria, which is responsive to colchicine treatment.   Acknowledgements  The authors declare that there is no conflict of interests.   References  1. Kevin E.C. Meyers, MBBCh (2004). Evaluation of hematuria in children. Urol Clin N Am, 31(3): 559–573 2.  Girisgen I, Sonmez F, Koseoglu K, Erisen S, Yilmaz D (2012). Polyarteritis nodosa and Henoch-Schönlein purpura nephritis in a child Iran J Public Health, Vol. 44, No.8, Aug 2015, pp.1143-1145  1145                                                                                                        Available at:  http://ijph.tums.ac.ir with familial Mediterranean fever: a case re-port. Rheumatol Int, 32 (2):529-33.  3. Rigante D, Federico G, Ferrara P, Maggiano N, Avallone L, Pugliese AL, Stabile A (2005). IgA nephropathy in an Italian child with familial Mediterranean fever. Pediatr Nephrol, 20 (11):1642-4.  4. Korkmaz C, Ozdogan H, Kasapçopur O, Yazici H (2002). Acute phase response in familial Mediterranean fever. Ann Rheum Dis, 61(1):79-81. 5. Tekin M, Yalçinkaya F, Tümer N, Cakar N, Koçak H, Ozkaya N, Gençgönül H (1999). Familial Mediterranean fever-renal involve-ment by diseases other than amyloid. Nephrol Dial Transplant, 14 (2): 475-9. 6. Akpolat T, Akpolat I, Karagoz F, Yilmaz E, Kandemir B, Ozen S (2004). Familial Mediter-ranean fever and glomerulonephritis and re-view of the literature. Rheumatol Int,  24 (1): 43-5.  7. Peleg H, Ben-Chetrit E (2013). The kidney in fa-milial Mediterranean fever. J Rheumatol, 40 (12): 1948-50.       

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