A case of Sjögren syndrome and anti-neutrophil cytoplasmic antibody-associated vasculitis.

Sjögren's syndrome (SS) is a rare disease with the highest reported prevalence of 0.01-0.09%. Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) is another rare auto-immune disease (prevalence of 0.0009-0.01%). The co-occurrence of these two separate clinical entities in one patient might rarely be encountered as an overlap syndrome. Here, we present the case of a 60-year-old female patient who had complaints of headache, nausea, weakness, gritty sensation in her eyes, and dry mouth [unstimulated saliva production of 0.033 mL/minute (normal; >0.1 mL/minute)] with a blood pressure of 190/110 mmHg, hypertensive retinopathy, proteinuric kidney disease, positivity of myeloperoxidase anti-neutrophil cytoplasmic antibodies, anti-Ro-52, anti-Ro, and anti-La antibodies. Pauci-immune crescentic proliferative glomerulonephritis was found in a kidney biopsy and successfully treated with cyclophosphamide and methylprednisolone. The co-occurrence of these diseases was first reported in 1992 by Böttinger et al. Since then, nearly 37 cases of SS and AAV have been reported. By reporting this case of primary SS and AAV, we emphasize the importance of auto-antibody tests in searching for the etiology of patients with proteinuria.

A case report of antineutrophil cytoplasmic antibody-associated vasculitis and glomerular immune depositions.

BACKGROUND: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a systemic disease leading to renal complications of pauci-immune focal and segmental necrotizing crescentic glomerulonephritis (PI-NCGN). CASE DESCRIPTION: We present a 57-year-old female patient with rapidly progressive glomerulonephritis, multiple systemic infections [candidiasis and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)], severe weight loss, arthralgia, positive myeloperoxidase ANCA, acute deterioration of cardiac function and NCGN with heavy deposition of immunoglobulin (Ig) A and complement 3 (C3) in kidney biopsy. After two months of follow-up and appropriate treatments [methylprednisolone (60 mg/day), cyclophosphamide (15 mg/kg)], our patient recovered from multiple life-threatening infections, including candidiasis treated by fluconazole and SARS-CoV-2 treated by methylprednisolone and acute cardiac failure. In addition, she was saved from dialysis despite all poor prognostic factors. CONCLUSION: AAV might lead to immune complex deposition in kidneys due to different pathogenetic mechanisms like complement activation and immune complex formation, apart from losing tolerance to neutrophil proteins. HIPPOKRATIA 2022, 26 (2):86-88.

Is C1q nephropathy associated with a WDR19 gene mutation? A case report.

BACKGROUND: Even though complement 1q nephropathy (C1qN) was first introduced in 1985, this entity is still unknown and recognized by clinicians due to its rare prevalence (0.2 - 2.5 %) and insufficient emphasis. DESCRIPTION OF THE CASE: A 50-year-old woman was incidentally found to have non-nephrotic proteinuria with a normal glomerular filtration rate. Renal biopsy revealed C1qN with severe fibrosis. The presence of consanguinity and kidney diseases in family members of the patient led to genetic research, and homogenous mutation of c.991G>T (p.G331C) in the WD-repeat domain 19 (WDR19) gene was found. The same homozygous and heterozygous mutations in the WDR gene were found in the relatives of our patient with kidney diseases. One year of follow-up with methylprednisolone and mycophenolate mofetil treatment resulted in partial remission of the kidney disease. CONCLUSION: Renal biopsy for patients with non-nephrotic proteinuria without delay is suggested as it might be a surrogate marker of severe injury. Genetic mutations in the WDR19 gene should be searched for C1qN pathogenesis. This is the first adult case report on C1qN from Turkey.HIPPOKRATIA 2021, 25 (2):87-90.

Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease.

Multiple renal cysts in adult patients could have asymptomatic, benign and a nonprogressive course. However, these cysts could be renal features of a very rare hereditary, progressive syndrome defined as cranioectodermal dysplasia (CED or Sensenbrenner syndrome). Affected patients show dysmorphic features such as craniosynostosis, nail dystrophy, cutaneous dyshydrosis, dry or scaly palmar skin, trichodysplasia, deafness, pectus excavatum, telecanthus, hypertelorism, low set ears, everted lower lip, anteverted nares, short neck and height, joint laxity, inguinal hernia, widely spaced teeth, microdontia, hypodontia in addition to nephronophthisis. We report a 22-year-old male hypertensive patient with multiple renal cysts and dental malformations listed as malocclusion, screwdriver shaped crowns, widely spaced front teeth, microdontia and hyperdontia. Molecular analysis reported missense p.(Ala875Thr) and p.(Lys969Asn) variants in the WDR35 gene. The 1-year follow-up of this case provided the knowledge that angiotensin II receptor blocker drug (olmesartan) reduced the microalbuminuria to normal levels and preserved the renal functions. We suggest interdisciplinary studies, especially intraoral and genetic evaluations for patients with cystic renal diseases. For the first time we report that hyperdontia could be found as a dental feature of CED.

Comparison of mental health, quality of sleep and life among patients with different stages of chronic kidney disease and undergoing different renal replacement therapies.

BACKGROUND: The present study aimed to investigate and compare mental health, health-related quality of life, and sleep levels of patients with various stages of chronic kidney disease (CKD) and undergoing different renal replacement therapies and analyze the factors affecting these parameters. METHODS: Overall, 140 patients with a mean age of 43 ± 14 years were recruited into this study. Study groups [controls and patients with CKD undergoing predialysis, hemodialysis (HD), peritoneal dialysis, kidney transplantation (KT)] were evaluated using Short Form Health Survey-36 (SF-36), Kidney Disease Quality of Life-36 (KDQoL-36), Pittsburgh Sleep Quality Index (PSQI), and General Health Questionnaire-12 (GHQ-12). RESULTS: The KT group had the highest scores in physical and mental components of the subscales of SF-36 and KDQoL-36 but the lowest scores in PSQI and GHQ-12, indicating the best results in terms of mental health and quality of life, and sleep. Serum albumin and hemoglobin levels were positively correlated with several subscales of quality of life. Significant negative correlations were observed among PSQI, GHQ-12, and subscale scores of SF-36 and KDQoL-36. The HD group showed significantly lower scores in the subscales of symptoms and burden of kidney disease of KDQoL-36. CONCLUSION: KDQoL was worse in the HD group and better in the KT group than in other groups. Serum albumin and hemoglobin levels, and Kt/V (dialyzer clearance of urea multiplied by dialysis time and normalized for urea distribution volume ) values of patients with CKD exerted a linear and significant effect on the quality of life, which showed a significant positive correlation with the quality of sleep and mental health. In contrast, serum calcium x phosphorus levels showed an inverse correlation with the subscale scores of KDQoL. HIPPOKRATIA 2020, 24(2): 51-58.

In the presence of hypokalemia and hypomagnesemia; remember Gitelman syndrome.

BACKGROUND: Hypokalemia and hypomagnesemia caused due to renal losses with chloride-resistant metabolic alkalosis in normotensive patients should remind clinicians of the rare inherited tubulopathy, Gitelman syndrome. Its diagnosis is further strengthened by the presence of consanguinity and the absence of kaliuretic medications. A definitive diagnosis should be based on genetic testing. CASE REPORT: We present the cases of three asymptomatic adult patients who were genetically (mutation in the SCL12A3 gene) diagnosed with Gitelman syndrome of different severity and response to therapy in terms of hypokalemia, hypomagnesemia, and metabolic alkalosis. CONCLUSION: This lifelong disease could cause life-threatening conditions due to the cardiac complications of hypokalemia in some of the affected patients. Therefore, it is necessary to be aware of the appropriate diagnosis and treatment for patients admitted to the clinic with hypokalemia, hypomagnesemia, hypocalciuria, and hyperreninemia. HIPPOKRATIA 2019, 23(4): 175-178.

The relationship between dermatological findings and serum interleukin 31 and serum uridine diphosphate glucose ceramide glucosyltransferase levels among patients with chronic kidney disease.

BACKGROUND: Cutaneous diseases are observed with increasing duration and severity of renal disease in patients with chronic kidney disease (CKD). This study aimed to elucidate dermatological manifestations at different stages of CKD and determine their relationship with interleukin 31 (IL-31), a T-cell cytokine that induces severe pruritus, and uridine diphosphate (UDP)-glucose ceramide glucosyltransferase (UGCG), an enzyme that metabolizes ceramide, which plays an important role in moisturizing epidermis. METHODS: In this retrospective cohort study 145 patients with a mean age of 46 ± 17 years were categorized into hemodialysis (group 1), peritoneal dialysis (group 2),  kidney transplant (group 3), CKD (group 4), and healthy control (group 5) groups. Serum IL-31 and  UGCG levels were measured using enzyme-linked immunosorbent assay, and clinical dermatologists evaluated dermatological manifestations. RESULTS: In the overall cohort, pruritus was significantly and inversely correlated with glomerular filtration rate and serum hemoglobin and albumin levels (p <0.005). Additionally, pruritus was significantly more frequent in group 2 than in group 5; and significantly less frequent in group 3 than in groups 1, 2, and 4 (p =0.01). In group 4, the patients with longitudinal nail ridges had significantly higher serum IL-31 levels than those without longitudinal nail ridges in their nails (p =0.02). Furthermore, in group 2, the patients with pruritus had significantly lower UGCG levels than those without pruritus (p =0.045). CONCLUSION: IL-31 might play a role in the development of longitudinal nail ridges, whereas UGCG might provide protection from pruritus and xerosis in patients with CKD.  HIPPOKRATIA 2019, 23(2): 75-80.

Risk factors for peritonitis related to peritoneal dialysis.

BACKGROUND: The aim of this study was to evaluate risk factors for peritonitis associated with peritoneal dialysis in our centre. METHODS: Forty patients on chronic peritoneal dialysis between 2006-2010 were enrolled in this study. Nutritional, sociodemographical, psychological, dialysis related (peritoneal modality, characteristics and adequacy) possible risk factors associated with the development of peritonitis were recorded. Data of patients with and without peritonitis were compared using the Student's t-test and chi-square test. RESULTS: There were 31 episodes of peritonitis among 21 patients, while other 19 patients had not experienced peritonitis resulting in a rate of 1 episode / 44 patient months. Staphylococcus aureus was the most frequent microorganism isolated (31 %). Hypoalbuminemia, technical problems, poor personal and environmental hygiene, low educational status, current or former smoking history and less urine output were observed significantly more in patients who had peritonitis. CONCLUSIONS: Our results confirm that educational, psychological, nutritional, smoking and hygiene status and amount of urine output are closely associated with peritonitis among peritoneal dialysis patients. Measures to improve these factors may help prevent and control peritoneal dialysis related peritonitis (Tab. 4, Ref. 14).

A comparison of the effects of losartan and ramipril on blood pressure, renal volume and progression in polycystic kidney disease: A 5-Year follow-up.

BACKGROUND: The major cause of hereditary renal failure is autosomal dominant polycystic kidney disease (ADPKD). Many factors affect renal progression in these patients. Among these, hypertension and an increase in renal volume are interrelated in terms of their effects on renal progression. We aimed to investigate the effects of losartan and ramipril on renal volume and progression in patients with ADPKD. MATERIALS AND METHODS: Data from 18 hypertensive patients with ADPKD were evaluated. Eleven of the 18 hypertensive patients were on losartan and 7 on ramipril treatment. Demographic parameters, use of antihypertensives and other medications, the course of blood pressure (BP), biochemical parameters, creatinine clearance (CrCL), findings at computed tomography and renal volume were recorded at baseline and at 1 and 5 years. RESULTS: Target BP values were maintained over 5 years. The annual decrease in CrCL was 1.33 mL/min in the losartan group compared with 6.59 mL/min in the ramipril group. There was no significant difference between the groups in terms of annual decrease in CrCL. Annual increase in renal volume was 252.04 cm³ in the losartan group and 167.36 cm³ in the ramipril group. There was no significant difference between the groups in terms of the increase in renal volumes at 1 and 5 years. CONCLUSION: Our study demonstrated that losartan and ramipril provided effective BP control. In addition, the results of our study demonstrated that despite the increase in renal volume, losartan and ramipril may have regressed renal progression via other factors.

Evaluation of nutritional parameters of hemodialysis patients.

BACKGROUND: This study was performed to investigate nutritional parameters of hemodialysis patients by using anthropometric and biochemical measurements. METHODS: Data from the last 6 months of 22 adult hemodialysis patients with a mean age of 61 ± 14 years were analyzed retrospectively. Dialysis vintage, normalized protein catabolic rate (nPCR), serum biochemical parameters, mid arm muscle circumference (MAMC) were determined as mean and standard deviation. Correlations between the variables were computed by coefficient p of Pearson. RESULTS: We found significant positive correlations: age of patients versus C-reactive protein, MAMC versus LDL-Cholesterol, MAMC versus body mass index, albumin versus hemoglobin. There were also significant negative correlations: age versus serum creatinine, age versus albumin, age versus intact parathyroid hormone (iPTH), dialysis vintage versus MAMC. CONCLUSION: In conclusion, age seem to be negatively associated with iPTH and albumin. As dialysis vintage increases, muscle mass seems to decrease.

Information, attitude, and behavior toward organ transplantation and donation among health workers in the eastern Black Sea region of Turkey.

AIM: We sought to evaluate the information, attitude, and behaviors toward organ donation among health workers in the eastern Black Sea region of Turkey. METHOD: This descriptive study was performed between December 2008 and November 2009. It involved 1,545 health personnel in 8 state hospitals in the eastern Black Sea region of Turkey, excluding the university hospitals in the towns of Trabzon, Rize, Gümüshane, and Giresun. Educational seminars regarding organ transplantation and donation were arranged for the hospitals in the study. Questionnaires on the subject distributed to the participants were collected before the seminars began. They contained questions about occupation, gender, age, previous organ donation, whether the person would consider donating if they had not already volunteered (if not, the reasons why), whether any relatives had volunteered to donate organs, whether anyone close to them had volunteered to donate organs, whether they would donate organs in the event of a relative's death, and what they might think if they were to require an organ transplant. Following the seminars, participants were given the opportunity to obtain organ donation cards from a stand on site. Data were analyzed using the chi-square test. RESULTS: Eighty-one participants (5.2%), including 46 women (5.2%) and 35 men (5.3%), had previously officially volunteered to donate organs (P = .875). One hundred thirty-seven health personnel were willing to donate organs by visiting the donation stand after the seminars. The main reasons for participants who had not volunteered to donate organs failing to do so were lack of information about donation and procedures (28.4%), lack of interest in the subject (23.2%), and Islamic religious beliefs and/or traditions (19.6%). One hundred eighty health personnel (11.7%) had family members or relatives who had volunteered to donate organs. Asked whether they would donate that person's organs in the event of the death of a relative, 93 doctors (67.6%), 225 nonphysician health personnel (41.1%), and 345 other participants (43.1%) stated that they would not (P < .0005). CONCLUSIONS: Health workers play a key role to overcome the difficulties encountered regarding organ donation. This study showed the need for constant effective education seminars to enhance knowledge and sensitivity on the part of health workers.

Bilateral asymptomatic giant renal artery aneurysm.

The incidence of renal artery aneurysm is very low. Approximately in 20% of these patients hypertension is observed. The diameter of aneurysm increases with accompanying complication rates. The most feared complication is rupture. The risk of rupture also increases with the diameter of aneurysm. We report an aneurysm with the biggest diameter reported in the literature. The patient had a 12 cm-diameter of aneurysm in one kidney and did not show any symptoms including hypertension until she was seventy years old.

Ramsay Hunt syndrome in renal transplantation recipient: a case report.

Ramsay Hunt syndrome develops upon reactivation of a latent virus within the geniculate ganglion. The patient presents with acute facial paralysis, severe ear pain, and a vesicular eruption of the external auditory canal and concha. Varicella zoster virus seropositivity occurs among approximately 90% of members of society. In these persons, virus reactivation may occur especially with advancing age and immunosuppression. We present a case of Ramsay Hunt syndrome that developed in a 35-year-old male patient, who had undergone a renal transplantation 8 months prior and had received maintenance immunosuppression.

The effect of indomethacin on hepatitis B virus replication in chronic healthy carriers.

BACKGROUND: A chronic HBsAg carrier state, a major cause of viral spread in a community, is one of the consequences of hepatitis B virus (HBV) infection. Although successful immunization programs have been initiated to eliminate the virus, there is still a large number of people with HBV infection worldwide. This study was designed to investigate the effect of indomethacin treatment on HBV markers in humans, in comparison with a control group. METHODS: In total, 65 chronic 'healthy' HBV carriers were involved in the study. Patients were divided randomly into two groups. Group I (n = 42) received oral indomethacin 75 mg daily for 6 months. Group II (n = 23) acted as control. Patients in both groups were followed up for 6 months, during which laboratory tests, including viral parameters, were performed periodically. Liver biopsy was done in 17 patients (11/42 of the indomethacin group and 6/23 of the control group). RESULTS: All liver biopsies showed grade 0-2 and stage 0-1 HBV in both groups (P > 0.05). HBsAg positivity did not change in any patient in either group. Five patients who had positive HBeAg in group I became negative 4 months later, while patients in group II continued to be positive at 6 months (P < 0.001). Similarly, all patients receiving indomethacin exhibited a total anti-HBeAg immunoglobulin response at 6 months, while the control group remained the same during this period (P < 0.05). HBV DNA, as detected by polymerase chain reaction in 20/22 (91%), was negative in group I at the end of 6 months. No change was observed in group II (P = 0.007). CONCLUSIONS: Although no biochemical analyses were performed on prostaglandins in the present study, the results suggest that the prostaglandin pathway may be involved in the pathogenesis of the immune response against HBV, and that the suppression of viral replication is achieved as indicated by the disappearance of HBeAg and HBV DNA in healthy chronic HBV carriers.

Action of somatostatin analogue (octreotide) on experimental hepatic encephalopathy in rats.

BACKGROUND/AIMS: We investigated the effect of a somatostatin analogue (octreotide) on hepatic encephalopathy in a rat model. Fulminant hepatic failure was induced by thioacetamide twice daily for 3 consecutive days. METHODOLOGY: Animals with hepatic encephalopathy grade III were divided into 2 groups. The groups received saline (control) or octreotide. In both groups the distance traveled in the open field activity, neurological score and mortality time were evaluated before and after the treatment. RESULTS: In the control group the motor activity was 13.7 +/- 6.4 and 12.9 +/- 5.5 cm/10 min, the neurological score was 8.4 +/- 0.9 and 8.5 +/- 1.3 before and after the treatment, respectively. In the octreotide group the motor activity was 11.4 +/- 5.0 and 10.4 +/- 3.5 cm/10 min, the neurological score was 8.8 +/- 1.5 and 8.6 +/- 0.9 before and after the treatment, respectively. Mortality times in the saline and octreotide group were 76.1 +/- 28.1 and 89.7 +/- 46.5 min, respectively. All parameters of this study were statistically not significant. CONCLUSIONS: This study demonstrated that somatostatin analogue, octreotide does not effect hepatic encephalopathy in an experimental rat model.