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Clinica Chimica Acta; International... Sep 2017Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action...
Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior. Partial HPRT deficiency is present in patients with Lesch-Nyhan variant (LNV), who present with HPRT-related gout and a variable degree of neurological involvement. The diagnosis of HPRT deficiency relies on clinical, biochemical, enzymatic and molecular data. Patients with HPRT deficiency present low or undetectable HPRT activity in hemolysates, with increased adenine phosphoribosyltransferase (APRT) activity. We present a 9-year-old boy who experienced an episode of macroscopic hematuria with dysuria and left flank pain. He presented hyperuricemia and hyperuricosuria. HPRT and APRT activities were both normal in hemolysate; however, HPRT activity assayed in intact erythrocytes was 50% of control levels. A new missense point mutation c.424 A>G (T142A) was found in the HPRT1 gene. The apparent Michaelis constant (Km) for 5-phosphoribosyl-pyrophosphate assayed in patient hemolysate was 20-fold of control levels. In conclusion, we report a patient with HPRT deficiency who presented with both normal HPRT and APRT activity in hemolysate, in which the enzyme activity determined in intact erythrocytes was of diagnostic utility.
Topics: Child; Erythrocytes; Hemolysis; Humans; Hypoxanthine Phosphoribosyltransferase; Male; Mutation, Missense
PubMed: 28782500
DOI: 10.1016/j.cca.2017.08.002 -
International Journal of Surgery Case... Aug 2021Primary tumors of the female urethra are exceedingly rare and account for <0.02% of the malignant disease occurring in women. This disease usually presents late and,...
INTRODUCTION
Primary tumors of the female urethra are exceedingly rare and account for <0.02% of the malignant disease occurring in women. This disease usually presents late and, hence, has a poor outcome. Early diagnosis is necessary to prevent further metastasis and prevent urinary catheter-dependant. Tumors arising from the distal urethra tend to be early stage and cure rates are high, however lack of knowledge about this disease is notorious, the transmission of knowledge is made only by case reports.
CASE PRESENTATION
A 76-years-old woman presented with the chief complaint of lower pelvic pain. The complaintas also accompanied by a burning sensation in the urethra and stranguria, urinary retention, and hematuria. Macroscopic observation revealed the lesion was whitish with vegetative aspect at the urethral meatus, involving the entire urethra. The fragile mass was palpable in distal urethra and external meatus urethra per vaginally and easily bleedings. Laboratory examination of blood chemistry results within normal limit. Urinalysis showed pyuria and hematuria. Urethrocystoscopy findings were whitish lesion with vegetative aspect also fragile mass along the urethra, abnormal bladder neck, and bladder mucous was hyperemis. The histopathological result showed metaplasia squamous cell carcinoma, clear cell carcinoma. She is planned on getting cystouretherectomy (anterior exenteration) later.
CLINICAL DISCUSSION
The female urethral carcinoma is a disease with low prevalence with urothelial carcinoma (transitional cell) is the most common histological type (Leão et al., 2016; Adolfsson et al., 2012). Symptoms of urethral carcinoma are varied. The carcinoma spreads initially by local invasion into the periurethral tissue, vagina, and vulva and proximally spread to the bladder neck (Leão et al., 2016; Mittal et al., 2020). Distant metastasis is uncommon (Mittal et al., 2020). The most suitable method for collecting material for biopsy is the urethrocystoscopy. MRI is commonly used for staging. For post-surgical staging, the best investigation is the excretory urography (Gourtsoyianni et al., 2011; Picozzi et al., 2012). The management in vogue are surgical such as tumor excision, radical nephro-ureterectomy or anterior pelvic exenteration with radiotherapy or chemotherapy complementary. This cancer is associated with poor outcomes. Therefore, prognostic factors are important to be known.
CONCLUSION
Although female urethral carcinoma is a rare disease entity, clinicians should have strong suspicion of malignancies in patients to make an exact diagnosis. Early radical surgery can achieve better outcomes, although the standard therapy remains controversial.
PubMed: 34311342
DOI: 10.1016/j.ijscr.2021.106100 -
Medicine Feb 2020Ageing people with hemophilia (PWH) have a higher prevalence of hypertension than the general population. This study aimed to determine whether macroscopic hematuria was...
Ageing people with hemophilia (PWH) have a higher prevalence of hypertension than the general population. This study aimed to determine whether macroscopic hematuria was associated with hypertension in PWH in a post hoc analysis using data from a cross-sectional study conducted by the ADVANCE Working Group (the H3 study), which included PWH ≥ 40 years of age. Data from 16 contributing centers, located in 13 European countries and Israel, were analyzed using logistic regression models. Of 532 recruited PWH in the H3 study, 117 had hypertension and a positive family history of hypertension (hypertension FH+), 75 had hypertension and a negative family history of hypertension (hypertension FH-), 290 had no diagnosis of hypertension, and the remaining 50 had missing hypertension data. Logistic regressions showed that macroscopic hematuria was associated with hypertension FH+, both in the univariate (OR = 1.84 [1.17-2.90], P = .01) and in the multivariate model (OR = 1.80 [1.03-3.16], P = .04). Macroscopic hematuria was not associated with hypertension FH-. Moreover, in a multivariate logistic regression the odds of hypertension FH+ were increased with the number of macroscopic hematuria episodes. The association between macroscopic hematuria and hypertension was significant for PWH with a family history of hypertension.
Topics: Adult; Aged; Aged, 80 and over; Aging; Cross-Sectional Studies; Female; Hematuria; Hemophilia A; Humans; Hypertension; Israel; Logistic Models; Male; Middle Aged; Risk Factors
PubMed: 32118768
DOI: 10.1097/MD.0000000000019339 -
FP Essentials May 2016Although kidney disease is much less common in children than in adults, clinicians must remain alert for the renal conditions that occur in this population because... (Review)
Review
Although kidney disease is much less common in children than in adults, clinicians must remain alert for the renal conditions that occur in this population because prompt diagnosis and management are essential. Acute postinfectious glomerulonephritis occurs as an uncommon sequela of streptococcal and other infections. Management is focused on providing supportive measures, including management of fluid-electrolyte imbalance and hypertension, until the patient recovers. Immunoglobulin (Ig) A nephropathy is a primary glomerulonephritis related to abnormal IgA glycosylation. The most common renal issue in children involves recurrent episodes of painless macroscopic hematuria during times of acute infection. Renal involvement occurs in the majority of children with Henoch-Schönlein purpura (HSP), with most experiencing asymptomatic hematuria and low level proteinuria. More severe forms of HSP nephritis, including rapidly progressive glomerulonephritis, may progress to end-stage kidney disease. Nephrotic syndrome commonly is related to steroid-responsive minimal change disease, and follows a course of relapses and remissions over time. However, a minority of children have steroid-resistant disease with potential for poor renal outcome.
Topics: Adolescent; Child; Child, Preschool; Female; Glomerulonephritis; Glomerulonephritis, IGA; Humans; IgA Vasculitis; Male; Nephrotic Syndrome; Streptococcal Infections; Streptococcus pyogenes
PubMed: 27163763
DOI: No ID Found -
Kidney & Blood Pressure Research 2015Information regarding the clinical and histological prognostic factors of IgA nephropathy (IgAN) is mostly derived from patients in whom diagnostic renal biopsies were...
BACKGROUND/AIMS
Information regarding the clinical and histological prognostic factors of IgA nephropathy (IgAN) is mostly derived from patients in whom diagnostic renal biopsies were performed because their proteinuria levels were higher than 1-2 g/d. The clinicopathological features and outcomes of IgAN patients presenting with normal blood pressure, normal renal function, hematuria and minimal or no proteinuria are not well described. We therefore conducted a study of the clinicopathological features and outcomes in IgAN patients with these characteristics.
METHODS
The clinical, laboratory, and pathological manifestations and long-term outcomes of all IgAN patients with the above-mentioned characteristics were collected. The relationships between renal pathology, injury, long-term outcomes and clinical factors were studied, and the risk factors of IgAN were analyzed using multivariate logistic regression.
RESULTS
Of all of the renal biopsy cases, IgAN with the above features accounted for 8.9%. Among these patients, 67.2% (253) showed simultaneous hematuria and proteinuria, 23.1% (87) showed only hematuria, and 9.7% (36) showed only proteinuria. Additionally, 33.8% (127) patients showed macroscopic hematuria and 65.1% (245) had a prodromal infection. Regarding renal pathological changes, 45.5% (171) of the patients were unexpectedly classified as Grade II to IV (Hass classification). Proteinuria at the time of renal biopsy was an independent predictor of more severe renal pathological injury. After a median follow-up of 75 months, 61 (16.2%) patients experienced adverse events. Among these patients, 28 (7.45%) exhibited hypertension, 22 (5.85%) presented proteinuria levels >1 g/24 h, and 11 (2.9%) developed impaired renal function.
CONCLUSIONS
Severe renal histological injury may be observed in some IgAN patients with benign clinical characteristics. Proteinuria is an independent predictor of severe renal pathological injury in IgAN patients with mild proteinuria. More severe pathological injury (> Grade II, Hass classification) are predictors of poor prognosis.
Topics: Adult; Biopsy; Disease Progression; Female; Glomerulonephritis, IGA; Hematuria; Humans; Kidney; Male; Proteinuria; Retrospective Studies; Risk Factors; Treatment Outcome; Young Adult
PubMed: 25924707
DOI: 10.1159/000368495 -
Journal of the College of Physicians... Dec 2022Although glomus tumour is usually seen in the subungual region of the extremities, it may rarely occur in visceral organs. Approximately 1% of all glomus tumours are...
Although glomus tumour is usually seen in the subungual region of the extremities, it may rarely occur in visceral organs. Approximately 1% of all glomus tumours are malignant. Malignant glomus tumours of the urinary system are extremely rare. This paper presents a case of malignant glomus tumour of the left ureter in a 41-year male patient who had undergone a simple left nephrectomy 4 years ago and presented with recurrent macroscopic haematuria. Uretectomy and mass excision were performed. No progression was observed during the 6-month post-operative follow-up. The tumour can be differentiated from other tumours by pathological and immunohistochemical examination following surgical excision. Because there are very few cases, the treatment protocol is not entirely clear. However, complete removal of the tumour is an effective treatment and can prevent local recurrence. Key Words: Malignant glomus tumour, Ureter, Treatment, Urogenital system.
Topics: Humans; Male; Glomus Tumor; Nail Diseases; Ureter; Ureteral Neoplasms; Sarcoma
PubMed: 36597340
DOI: 10.29271/jcpsp.2022.Supp0.SS206 -
Archivos Espanoles de Urologia Jun 2021To report the diagnostic accuracy and liability of the instrumentalized urine cytology in the preliminary study of monosyntomatic gross haematuria.
OBJECTIVE
To report the diagnostic accuracy and liability of the instrumentalized urine cytology in the preliminary study of monosyntomatic gross haematuria.
METHODS
A retrospective, descriptive and analytic study of the patients that complained of macroscopic hematuria at the one-stop clinic between 2011 and 2018. The complementary tests requested were: kidney/bladder ultrasounds, urethrocystoscopy and urinary instrumentalized cytology. All the urine cytology samples were examined by the same pathologist.
RESULTS
1122 patients were reviewed with ultrasonography and cystoscopy. Bladder tumor was detected in 354 patients (31.5%) and other urological malignancies were found in 33 cases (2.9%). Urinary instrumentalized cytologies were collected in 804 patients (71.4%), being positive in 236 cases (29.4%). Sensitivity and specificity of urinary cytology for urothelial tumor detection were 55.1% and 85.7%, respectively. Cytology was positive in 181 patients (52.1%) with visible bladder tumors through cystoscopy, in 7 patients (0.87%) without visible bladder tumors. In 433 patients with ultrasonography and cystoscopy both negative, urine cytology was performed with a negative result (38.6%).
CONCLUSION
The usefulness of instrumentalized urinary cytology to diagnose urothelial tumors is restricted in terms of monosymptomatic gross haematuria one stop clinic. It allows the diagnosis of a very limited number of cases tumors and leaves a significant number of them out. In case of gross hematuria and negative imaging, urine cytology can be requested as a differed complementary.
Topics: Cystoscopy; Hematuria; Humans; Retrospective Studies; Sensitivity and Specificity; Urinary Bladder Neoplasms; Urine; Urologic Neoplasms
PubMed: 34080566
DOI: No ID Found -
Nefrologia 2021Kidney problems are among the most common complications in sickle cell disease (SCD). They occur early in childhood and are one of the main factors related to mortality... (Review)
Review
Kidney problems are among the most common complications in sickle cell disease (SCD). They occur early in childhood and are one of the main factors related to mortality in these patients. The main underlying pathogenic mechanisms are vaso-occlusion and haemolysis. The renal medulla has ideal conditions for the sickling of red cells due to its low partial pressure of oxygen, high osmolarity and acidic pH. Initially, sickle-cell formation in the vasa recta of the renal medulla causes hyposthenuria. This is universal and appears in early childhood. Microscopic and macroscopic haematuria also occur, in part related to renal papillary necrosis when the infarcts are extensive. Release of prostaglandins in the renal medulla due to ischaemia leads to an increase in the glomerular filtration rate (GFR). Adaptively, sodium reabsorption in the proximal tubule increases, accompanied by increased creatinine secretion. Therefore, the GFR estimated from creatinine may be overestimated. Focal segmental glomerulosclerosis is the most common glomerular disease. Albuminuria is very common and reduction has been found in 72.8% of subjects treated with ACE inhibitors or ARB. Recent evidence suggests that free haemoglobin has harmful effects on podocytes, and may be a mechanism involved in impaired kidney function in these patients. These effects need to be better studied in SCD, as they could provide a therapeutic alternative in sickle cell nephropathy.
Topics: Anemia, Sickle Cell; Angiotensin Receptor Antagonists; Angiotensin-Converting Enzyme Inhibitors; Child, Preschool; Creatinine; Hemoglobins; Humans; Kidney; Oxygen; Partial Pressure; Prostaglandins; Renal Insufficiency; Sodium
PubMed: 36165106
DOI: 10.1016/j.nefroe.2021.10.001 -
Research and Practice in Thrombosis and... Feb 2020Macroscopic hematuria is considered a significant risk factor for urologic disease, and it is highly prevalent in people with hemophilia.
INTRODUCTION
Macroscopic hematuria is considered a significant risk factor for urologic disease, and it is highly prevalent in people with hemophilia.
AIM
To determine whether prophylactic factor replacement therapy is associated with reduced occurrence of macroscopic hematuria in people with hemophilia in a post hoc analysis using data from a cross-sectional study conducted by the Age-Related Developments and Comobordities in Hemophilia (ADVANCE) Working Group that included males with hemophilia ≥40 years of age.
METHODS
Data from 16 contributing centers, in 13 European countries and Israel, were analyzed using logistic regression. Of 532 recruited individuals, this analysis included 370 patients with moderate or severe hemophilia who received on-demand or prophylactic therapy.
RESULTS
For patients with a history of macroscopic hematuria, we analyzed the association between prophylaxis and reoccurrence of macroscopic hematuria within the past 5 years (n = 235 patients). Frequent (≥3 times/wk) prophylaxis was negatively associated with a recent episode of macroscopic hematuria (odds ratio [OR], 0.38; 95% confidence interval [CI], 0.18-0.76). We also analyzed whether prophylaxis corresponded to a lower lifetime number of macroscopic hematuria episodes (n = 285 patients). Frequent prophylaxis for >15 years was associated with a lower number of episodes compared to on-demand treatment (OR, 0.29; 95% CI, 0.16-0.54), whereas nonsteroidal anti-inflammatory drugs (NSAIDs) and severe hemophilia were associated with a higher number. There was no association of prophylaxis <3 times/wk with hematuria.
CONCLUSION
Frequent prophylaxis was negatively associated with the number of episodes of macroscopic hematuria in people with hemophilia. Prevalence of macroscopic hematuria was higher among individuals with severe hemophilia and those regularly using NSAIDs.
PubMed: 32110762
DOI: 10.1002/rth2.12298 -
Renal Failure Dec 2021The relationship between hematuria, a typical presentation of immunoglobulin A nephropathy (IgAN), and long-term adverse prognosis of these patients is still... (Meta-Analysis)
Meta-Analysis
The relationship between hematuria, a typical presentation of immunoglobulin A nephropathy (IgAN), and long-term adverse prognosis of these patients is still controversial. This meta-analysis aims to clarify the effect of hematuria on renal outcomes in IgAN. Observational cohort studies reporting associations between various forms of hematuria and renal outcomes among IgAN patients were identified from the PubMed and Embase databases. The pooled adjusted risk ratios (RRs) were computed with random effects models. Thirteen studies encompassing 5660 patients with IgAN were included. Patients with initial hematuria did not have a significantly increased risk of developing end-stage renal disease (ESRD) compared with those without hematuria (RR, 1.32; 95% CI, 0.87-2.00; = .19). However, initial microscopic hematuria was associated with an 87% increase in the risk of ESRD (RR, 1.87; 95% CI, 1.40-2.50; < .001), while macroscopic hematuria was associated with a 32% decrease in the risk of ESRD (RR, 0.68; 95% CI, 0.58-0.79; < .001). Additionally, persistent hematuria might be an independent risk factor for ESRD or a 50% decline in eGFR. Among IgAN patients, hematuria, including initial microscopic hematuria and even persistent hematuria, was possibly associated with renal progression and ESRD. However, independent of other classical predictors, initial macroscopic hematuria might be a protective factor for IgAN.
Topics: Disease Progression; Glomerular Filtration Rate; Glomerulonephritis, IGA; Hematuria; Humans; Kidney Failure, Chronic; Risk Factors
PubMed: 33685345
DOI: 10.1080/0886022X.2021.1879852