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Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficiency?

ABSTRACT: Hereditary C2 deficiency is the most common early complement deficiency and characterized by recurrent infections and autoimmunity despite most patients are also asymptomatic. Type I hereditary C2 deficiency is caused by a heterozygous deletion in C2 gene resulting in early stop codon and lack of C2 production. Clinical spectrum may vary and pure nephrological involvement without the presence of recurrent infections is scarce in hereditary C2 deficiency.We report here a previously healthy 14-year-old boy presenting recurrent self-limited macroscopic hematuria and persistently low serum C4 levels, diagnosed as having type I hereditary C2 deficiency with confirming a novel heterozygote deletion (c.1567?+?22_1567?+?43del) in C2 gene. He has been remained asymptomatic for the next 18 months. Since the diagnosis of C2 deficiency was made in the absence of organ-threatening involvement such as immune complex-mediated glomerulonephritis, we think that early diagnosis and optimal follow-up may improve life-span of the patients with hereditary early complement deficiencies.

SUBMITTER: Kisla Ekinci RM

PROVIDER: S-EPMC7502104 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficiency?

Kisla Ekinci Rabia Miray RM Altun İbrahim İ Bisgin Atil A Atmis Bahriye B Altintas Derya Ufuk DU Balcı Sibel S

CEN case reports 20200505 4

Hereditary C2 deficiency is the most common early complement deficiency and characterized by recurrent infections and autoimmunity despite most patients are also asymptomatic. Type I hereditary C2 deficiency is caused by a heterozygous deletion in C2 gene resulting in early stop codon and lack of C2 production. Clinical spectrum may vary and pure nephrological involvement without the presence of recurrent infections is scarce in hereditary C2 deficiency.We report here a previously healthy 14-yea ...[more]

PMID: 32372346

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Project description:Introduction and importanceProstatic leiomyosarcoma is a rare aggressive tumor. The presentation came with non-specific signs and symptoms likewise other forms of prostatic pathology like benign prostatic hyperplasia.Case presentationA 64 years old man presented to the emergency with a recurrent macroscopic hematuria, he was a heavy smoker and has reported lower urinary tract symptoms. On the physical examination, the patient was hemodynamically stable and afebrile. However, the digital rectal exam revealed an enlarged homogeneous prostate without any palpable nodule. Pelvic transabdominal ultrasound showed an enlarged prostate and a thickening of the bladder's left lateral wall. The CT-scan showed a large and heterogeneous mass arising from the left bladder wall measuring 100 mm, which extends through almost the entire bladder wall. Furthermore, the patient performed cystoscopy, performed by a Urology Professor, showing a normal urethra, a normal prostate gland, and a large solid bladder mass with multiple clots. Subsequently, multiple masses' biopsies were performed. The diagnosis of a primary protatic leomyosarcoma was based on the clinical findings and on the histopathological exam. The patient was prepared for a radical cystoprostatectomy, which would be performed by a Urology Professor, but he died of cardiac arrest before undergoing surgery.Clinical discussionThere are no specific clinical presentations of prostatic sarcoma, patients normally complain of urinary frequency and urinary urgency. Due to the lack of typical clinical symptoms, the tumor is easily overlooked or misdiagnosed as benign prostatic hyperplasia. In this case, the first symptom was a recurrent hematuria in a 64 years-old heavy smoker, which is a relatively rare obvious symptom according to literature. As showed in this case, recurrent hematuria may delay the diagnosis. Concerning the management of prostatic leiomyosarcoma, there are no standard recommendations. Multimodality combination treatments including surgery, pre or postoperative radiotherapy and neo or adjuvant chemotherapy have been used in the management of leiomyosarcoma of prostate.ConclusionProstatic leiomyosarcoma poses a unique diagnostic challenge, as clinical presentation alone may not always be suggestive, an unsual clinical presentation as recurrent hematuria must suggest a prostatic leimyosarcoma when associated with urinary frequency and urinary urgency. Histopathological examination and the FNCLCC grading system are essential for the definitive diagnosis. Multimodality treatment regimens including surgery, radiotherapy and chemotherapy are recommended.

Project description:Hereditary recurrent fevers (HRF) are a group of monogenic autoinflammatory diseases characterized by auto-resolving attacks of sterile inflammation caused by mutations of MEFV, TNFRSF1A and MVK genes1-3. Familial Mediterranean fever (FMF) is the prototype of a HPR and is caused by gain-of-function mutations of the MEFV gene, coding for pyrin4 5. Pyrin is part of the Pyrin-Inflammasome that controls the activation and secretion of interleukin (IL)-1β and can be activated by the cortical actin cytoskeleton remodeling induced by bacterial toxins via RhoA. Mevalonate kinase deficiency (MKD) is secondary to bi-allelic mutations of the gene coding for mevalonate kinase (MVK), an enzyme involved in the cholesterol biosynthesis. Loss-of-function MVK mutations lead to a defective sterol synthesis and to a reduced prenylation of small G proteins, such as RhoA, favoring the activation of the Pyrin-inflammasome6-8. TNF receptor-associated periodic syndrome (TRAPS) is secondary to autosomal dominant mutations of the gene coding for the type I receptor for TNF (TNFRSF1A), resulting in a heap of misfolded TNF receptor 1 in the endoplasmic reticulum, leading to oxidative stress, defective autophagy and consequent over-secretion of pro-inflammatory cytokines9 10. The clinical manifestations of HRFs are rather unspecific and consist mainly in fever, serositis, skin rash, limb and articular pain. No specific biomarkers able to distinguish one among the different HRFs have been identified, so far11. Moreover, the majority of the studies investigating the pathogenic consequences of the genes’ mutations associated with the three HRFs were focused on the few mechanisms classically associated to the pro-inflammatory activation of cells of the innate immunity (NF-kB and MAPK activation, IL-1b activation and secretion). Conversely, an unbiased analysis of possible additional intracellular pathways involved in the different conditions has not been exploited. Recently, large-scale proteomics based on high-resolution mass spectrometry (MS) has offered a systems-wide hypothesis-free method to analyze intracellular pathways in order to identify new disease biomarkers12-14. Here, we analyzed the proteomic signature of unstimulated and stimulated monocytes of patients with FMF, TRAPS and MKD, describing the dysregulated intracellular pathways associated with each condition for the identification of possible biomarkers and possible novel therapeutic targets.

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Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficiency?

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Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficiency?

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