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1.
Front Endocrinol (Lausanne) ; 15: 1348971, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38481445

RESUMO

Purpose: Population-based and registry studies have shown that chronic hypoparathyroidism is accompanied by long-term complications. We aimed to evaluate the risk of incident comorbidity among patients with chronic postsurgical hypoparathyroidism in real-life clinical practice in Spain. Methods: We performed a multicenter, retrospective cohort study including patients with chronic postsurgical hypoparathyroidism lasting ≥3 years with at least a follow-up visit between January 1, 2022 and September 15, 2023 (group H). The prevalence and incidence of chronic complications including chronic kidney disease, nephrolithiasis/nephrocalcinosis, hypertension, dyslipidemia, diabetes, cardiovascular disease, central nervous system disease, mental health disorders, eye disorders, bone mineral density alterations, fracture and cancer were evaluated. Patient data were compared with a group of patients who did not develop hypoparathyroidism, matched by gender, age, and follow-up time after thyroidectomy (group NH). Results: We included 337 patients in group H (median [IQR] age, 45 [36-56] years; median time of follow-up, 8.9 [6.0-13.0] years; women, 84.3%) and 669 in group NH (median age, 47 [37-55] years; median time of follow-up, 8.0 [5.3-12.0] years; women, 84.9%). No significant differences were found in the prevalence of comorbidities at the time of thyroidectomy between both groups. In multivariable adjusted analysis, patients with chronic hypoparathyroidism had significantly higher risk of incident chronic kidney disease (OR, 3.45; 95% CI, 1.72-6.91; P<0.001), nephrolithiasis (OR, 3.34; 95% CI, 1.55-7.22; P=0.002), and cardiovascular disease (OR, 2.03; 95% CI, 1.14-3.60; P=0.016), compared with patients without hypoparathyroidism. On the contrary, the risk of fracture was decreased in patients with hypoparathyroidism (OR, 0.09; 95% CI, 0.01-0.70; P=0.021). Conclusion: This study demonstrates that, in the clinical practice of Spanish endocrinologists, a significant increase in the risk of chronic kidney disease, nephrolithiasis and cardiovascular disease, as well as a reduction in the risk of fractures is detected. These results are of interest for the development of new clinical guidelines and monitoring protocols for patients with hypoparathyroidism.


Assuntos
Doenças Cardiovasculares , Fraturas Ósseas , Hipoparatireoidismo , Nefrolitíase , Insuficiência Renal Crônica , Feminino , Humanos , Pessoa de Meia-Idade , Doenças Cardiovasculares/etiologia , Comorbidade , Fraturas Ósseas/etiologia , Hipoparatireoidismo/etiologia , Hipoparatireoidismo/complicações , Nefrolitíase/complicações , Insuficiência Renal Crônica/etiologia , Insuficiência Renal Crônica/complicações , Estudos Retrospectivos , Tireoidectomia/efeitos adversos , Masculino , Adulto
2.
Am J Surg ; 231: 91-95, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38480062

RESUMO

BACKGROUND: We aimed to investigate the prevalence, characteristics, and management of nephrolithiasis in primary hyperparathyroidism (PHPT) patients. METHODS: Medical records of patients who underwent parathyroidectomy at a tertiary care hospital in British Columbia from January 2016 to April 2023 were retrospectively reviewed. Demographic data, laboratory results, imaging reports, and urologic consultations were examined. Descriptive statistics and relevant statistical tests, including logistic regressions, were utilized for data analysis. RESULT: Of the 413 PHPT patients included in the study population, 41.9% harbored renal stones, and nearly half (48.6%) required urological interventions. Male sex, elevated preoperative serum ionized calcium (iCa) and 24-h urinary calcium (24 â€‹h urine Ca) levels were independent risk factors for stone formation. Additionally, male sex, younger age, and lower preoperative serum 25-hydroxyvitamin D (25(OH)D) level were associated with higher odds of requiring urological intervention for stones. CONCLUSIONS: This study identified significant prevalence of asymptomatic renal calcifications in PHPT patients, with a substantial proportion necessitating urological intervention. These findings emphasize the importance of incorporating screening and treatment of renal stones into the management of PHPT patients.


Assuntos
Hiperparatireoidismo Primário , Nefrolitíase , Humanos , Masculino , Cálcio , Hiperparatireoidismo Primário/complicações , Hiperparatireoidismo Primário/cirurgia , Estudos Retrospectivos , Nefrolitíase/complicações , Nefrolitíase/diagnóstico , Nefrolitíase/epidemiologia , Colúmbia Britânica , Paratireoidectomia/efeitos adversos , Hormônio Paratireóideo
3.
Nephrology (Carlton) ; 29(4): 201-213, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38290500

RESUMO

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey. METHODS: This is a nationwide, multicentre, retrospective study evaluating all available paediatric PH1 patients from 15 different paediatric nephrology centres in Turkey. Detailed patient data was collected which included demographic, clinical and laboratory features. Patients were classified according to their age and characteristics at presentation: patients presenting in the first year of life with nephrocalcinosis/nephrolithiasis (infantile oxalosis, Group 1), cases with recurrent nephrolithiasis diagnosed during childhood (childhood-onset PH1, Group 2), and asymptomatic children diagnosed with family screening (Group 3). RESULTS: Forty-eight patients had a mutation consistent with PH1. The most common mutation was c.971_972delTG (25%). Infantile oxalosis patients had more advanced chronic kidney disease (CKD) or kidney failure necessitating dialysis (76.9% vs. 45.5%). These patients had much worse clinical course and mortality rates seemed to be higher (23.1% vs. 13.6%). Patients with fatal outcomes were the ones with significant comorbidities, especially with cardiovascular involvement. Patients in Group 3 were followed with better outcomes, with no kidney failure or mortality. CONCLUSION: PH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality.


Assuntos
Hiperoxalúria Primária , Hiperoxalúria , Falência Renal Crônica , Nefrocalcinose , Nefrolitíase , Insuficiência Renal , Humanos , Criança , Nefrocalcinose/diagnóstico , Nefrocalcinose/epidemiologia , Nefrocalcinose/etiologia , Estudos Retrospectivos , Falência Renal Crônica/complicações , Diálise Renal/efeitos adversos , Hiperoxalúria Primária/complicações , Hiperoxalúria Primária/diagnóstico , Hiperoxalúria Primária/genética , Nefrolitíase/complicações , Nefrolitíase/diagnóstico , Nefrolitíase/genética , Hiperoxalúria/complicações
4.
Klin Monbl Augenheilkd ; 241(1): 110-118, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36581053

RESUMO

PURPOSE: Dry eye syndrome (DES) is one of the most common diseases of the ocular surface. Affected persons suffer from different subjective complaints, with sometimes severe impairment in the quality of life. The aetiology and pathogenesis are multifactorial, multifaceted, and not yet fully understood. The present study is intended to provide deeper insights into possible triggering factors and correlating comorbidities. MATERIALS AND METHODS: In German ophthalmological practices, 306 persons (174 women, 132 men, age: 18 - 87 years) were interviewed by questionnaire on concomitant diseases and possible further triggering factors. DES was diagnosed by an ophthalmologist in 170 cases. The statistical comparative analysis between persons with and without DES was carried out using the chi-squared test (SPSS statistical software). RESULTS: DES occurred with significantly (p < 0.05) increased frequency in women over 40 years of age, as well as in persons exposed to screen work, air conditioning, persons with chronic ocular inflammation, myomas (hysterectomy), dry skin, arterial hypertonicity in need of medication, cardiac arrhythmias, fatty liver, gastric ulcer, appendicitis, cholecystectomy, depression, hyperlipidaemia, hyperuricaemia, osteoporosis, and nephrolithiasis. CONCLUSION: Some of the known comorbidities and DES risk factors, e.g., computer work or depression, were confirmed. In contrast, the higher prevalence of hyperlipidaemia, hyperuricaemia, osteoporosis, nephrolithiasis, and fibroids among DES patients has not previously been reported. Additional studies should be performed on causal connections between DES and specific comorbidities.


Assuntos
Síndromes do Olho Seco , Hiperlipidemias , Hiperuricemia , Nefrolitíase , Osteoporose , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Adolescente , Adulto Jovem , Idoso , Idoso de 80 Anos ou mais , Qualidade de Vida , Hiperuricemia/complicações , Síndromes do Olho Seco/diagnóstico , Síndromes do Olho Seco/epidemiologia , Fatores de Risco , Hiperlipidemias/complicações , Osteoporose/complicações , Nefrolitíase/complicações
5.
Mod Rheumatol ; 34(2): 376-381, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-36823314

RESUMO

OBJECTIVE: The present study compared the clinical features of patients with primary Sjögren's syndrome (pSS) with and without nephrolithiasis and/or nephrocalcinosis to determine factors related to renal dysfunction. METHODS: The clinical features of 68 patients with anti-Sjogren's syndrome antigen A (SSA)/Ro-antibody-positive pSS with and without nephrolithiasis and/or nephrocalcinosis who underwent abdominal computed tomography and/or ultrasonography were retrospectively analysed. RESULTS: Of the 68 patients with anti-SSA-antibody-positive pSS, 23 (33%) had renal nephrolithiasis and/or nephrocalcinosis, whereas 45 (67%) did not. Fourteen (20%) patients had renal dysfunction at diagnostic imaging. Among five patients who underwent renal biopsy, four patients with renal nephrolithiasis and/or nephrocalcinosis were diagnosed with tubulointerstitial nephritis, and one without nephrolithiasis and/or nephrocalcinosis was diagnosed with minimal change nephrotic syndrome. Estimated glomerular filtration rate at diagnostic imaging was significantly lower in patients with than without nephrolithiasis and/or nephrocalcinosis group (P = 0.010). In addition to nephrolithiasis and/or nephrocalcinosis (odds ratio [OR], 3.467; P = 0.045), the gap between serum sodium and chloride concentrations (OR, 10.400; P = 0.012) and increased urinary ß2-microglobulin (OR, 5.444; P = 0.033) were associated with renal dysfunction at the time of diagnostic imaging. CONCLUSION: Nephrolithiasis and/or nephrocalcinosis, normal anion gap metabolic acidosis, and tubulointerstitial damage are associated with renal dysfunction in patients with pSS.


Assuntos
Acidose Tubular Renal , Nefrocalcinose , Nefrolitíase , Síndrome de Sjogren , Humanos , Nefrocalcinose/complicações , Nefrocalcinose/diagnóstico por imagem , Síndrome de Sjogren/complicações , Síndrome de Sjogren/diagnóstico , Estudos Retrospectivos , Acidose Tubular Renal/complicações , Nefrolitíase/complicações , Nefrolitíase/diagnóstico por imagem , Anticorpos
6.
Endocrine ; 83(3): 757-762, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38091198

RESUMO

PURPOSE: Baseline renal dysfunction predicts mortality in primary hyperparathyroidism (PHPT). However, it remains controversial whether renal insufficiency in PHPT is due to disease severity alone or other risk factors. This study aimed to explore the association of clinico-biochemical variables with renal dysfunction [estimated glomerular filtration rate (eGFR) < 60 ml/min/m2] in PHPT. METHODS: A total of 112 patients of PHPT were selected and divided into following subgroups: renal dysfunction (n = 28) and normal renal function (n = 84). Demographic characteristics, traditional risk factors, phenotypes of PHPT based on target organ involvement, and biochemical parameters were compared between these subgroups. RESULTS: Patient subgroups of PHPT with and without renal dysfunction had similar age, frequency of diabetes, and hypertension. Renal dysfunction was more prevalent in males (p < 0.05). Compared to normal renal function subgroup, individuals with renal dysfunction had higher serum levels of calcium, phosphate, alkaline phosphatase, intact parathormone (all p < 0.05), while having lower hemoglobin levels (p < 0.05) and higher nephrolithiasis rates (p < 0.05). Multiple regression analysis revealed that nephrolithiasis, serum calcium-phosphorous product (CaxP), parathormone levels were positively associated with baseline renal dysfunction (all p < 0.01). A baseline PTH > 456 pg/mL and CaxP > 30.0 mg2/dl2 could discriminate renal dysfunction from normal renal function with sensitivity and specificity of 75% and 74.5% and 92.6% and 74.4%, respectively. CONCLUSION: Renal dysfunction was associated with presence of nephrolithiasis, elevated serum CaxP and PTH levels in our cohort with predominantly symptomatic PHPT, indicating an association with the underlying disease itself. Serum CaxP may additionally be appraised during risk assessment in PHPT.


Assuntos
Fosfatos de Cálcio , Hipercalcemia , Hiperparatireoidismo Primário , Nefrolitíase , Masculino , Humanos , Cálcio , Fosfatos , Nefrolitíase/complicações , Hormônio Paratireóideo
7.
Arch. esp. urol. (Ed. impr.) ; 76(10): 823-828, diciembre 2023. tab, ilus
Artigo em Inglês | IBECS | ID: ibc-229543

RESUMO

Patients with chronic diarrhoea or ileostomies suffer from electrolyte and urinary disorders and are prone to developing uricacid or calcium oxalate stones. Evidence is lacking regarding the management of uric acid stones in patients with inflammatorybowel diseases. We present the case of a male patient with Crohn’s disease and carrying an ileostomy. He was diagnosed with uricacid urolithiasis (stone size of 11 mm located in the left pyeloureteral junction) after presenting to the emergency room during anepisode of left renal colic. Results of the 24-hour urinalysis showed an acidic pH (pH <5), consistent with hyperuricosuria. Thesuspicion of uric acid lithiasis was confirmed after performing an X-ray diffraction analysis of a lithiasic fragment that passedduring acute renal colic. The patient was prescribed with urinary alkalinisers (medical treatment) and dietary recommendations.After 12 months of treatment and urine pH monitoring, the patient achieved complete chemolysis while maintaining the stabilityof his underlying Crohn’s disease. The patient had no complications during follow-up, referring adequate gastrointestinal toleranceto treatment and denying side effects. The patient remains asymptomatic and is being followed-up on an outpatient basis.He continues on prophylactic treatment (Lit-Control® pH Up) to maintain the pH in the non-acidic range. (AU)


Assuntos
Humanos , Masculino , Doença de Crohn/complicações , Doença de Crohn/terapia , Litíase , Nefrolitíase/complicações , Ácido Úrico , Pacientes
8.
Int J Mol Sci ; 24(24)2023 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-38139117

RESUMO

Serum phosphate concentration is regulated by renal phosphate reabsorption and mediated by sodium-phosphate cotransporters. Germline mutations in genes encoding these cotransporters have been associated with clinical phenotypes, variably characterized by hyperphosphaturia, hypophosphatemia, recurrent kidney stones, skeletal demineralization, and early onset osteoporosis. We reported a 33-year-old male patient presenting a history of recurrent nephrolithiasis and early onset osteopenia in the lumbar spine and femur. He was tested, through next generation sequencing (NGS), by using a customized multigenic panel containing 33 genes, whose mutations are known to be responsible for the development of congenital parathyroid diseases. Two further genes, SLC34A1 and SLC34A3, encoding two sodium-phosphate cotransporters, were additionally tested. A novel germline heterozygous mutation was identified in the SLC34A1 gene, c.1627G>T (p.Gly543Cys), currently not reported in databases of human gene mutations and scientific literature. SLC34A1 germline heterozygous mutations have been associated with the autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1). Consistently, alongside the clinical features of NPHLOP1, our patient experienced recurrent nephrolithiasis and lumbar and femoral osteopenia at a young age. Genetic screening for the p.Gly453Cys variant and the clinical characterization of his first-degree relatives associated the presence of the variant in one younger brother, presenting renal colic and microlithiasis, suggesting p.Gly453Cys is possibly associated with renal altered function in the NPHLOP1 phenotype.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Nefrolitíase , Osteoporose , Humanos , Masculino , Adulto , Nefrolitíase/complicações , Nefrolitíase/genética , Raquitismo Hipofosfatêmico Familiar/genética , Mutação , Fosfatos/metabolismo , Proteínas Cotransportadoras de Sódio-Fosfato/genética , Sódio , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa
9.
R I Med J (2013) ; 106(11): 36-40, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38015783

RESUMO

The incidence of stone disease has increased significantly in the past 30 years, with a reported prevalence of 11% of the U.S. population in 2022, up from 9% in 2012 and 5.2% in 1994.1 While prevention is a vital aspect of management, many patients present with symptomatic urolithiasis requiring surgical management. Emerging advances in endoscopy and technology has led to a dynamic shift in the surgical management of stone disease. This paper will serve as a comprehensive review to inform urologic and non-urologic medical professionals alike, as well as the layperson, on the surgical treatment of nephrolithiasis, starting from the initial evaluation, laboratory and radiographic studies, and various surgical options. Additionally, the nuances of managing the pediatric and pregnant patient with nephrolithiasis will be explored. Using the most up-to-date urologic data, our aim is to provide a comprehensive resource for readers who interact with patients experiencing acute episodes of urolithiasis.


Assuntos
Nefrolitíase , Urolitíase , Urologia , Feminino , Gravidez , Humanos , Criança , Urolitíase/cirurgia , Urolitíase/etiologia , Urolitíase/prevenção & controle , Nefrolitíase/cirurgia , Nefrolitíase/complicações
10.
J Dig Dis ; 24(11): 572-583, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37823607

RESUMO

OBJECTIVES: The incidence and prevalence of inflammatory bowel disease (IBD), mainly including ulcerative colitis (UC) and Crohn's disease (CD), are increasing globally. We aimed to evaluate the potential association between IBD and nephrolithiasis, tubulointerstitial nephritis, and chronic kidney disease (CKD). METHODS: Data of hospitalized adults ≥20 years of age were extracted from the U.S. National Inpatient Sample (NIS) during 2016-2018. Patients with UC, CD, or CKD were identified through the International Classification of Diseases, Tenth Revision (ICD-10) codes. Propensity score matching (PSM) analysis (1:1) was conducted to balance the characteristics between groups. Logistic regression analyses were performed to determine the relationships between UC or CD and kidney conditions. RESULTS: Three cohorts were included for analysis after PSM analysis. Cohorts 1, 2 and 3 contained 235 262 subjects (117 631 with CD or without IBD), 140 856 subjects (70 428 with UC or without IBD), and 139 098 subjects (69 549 with CD or UC), respectively. Multivariate analysis revealed that compared to non-IBD individuals, CD patients were significantly associated with greater odds for nephrolithiasis (adjusted odds ratio [aOR] 2.25, 95% confidence interval [CI] 2.08-2.43), tubulointerstitial nephritis (aOR 1.31, 95% CI 1.24-1.38), CKD at any stage (aOR 1.28, 95% CI 1.24-1.32), and moderate-to-severe CKD (aOR 1.22, 95% CI 1.17-1.26), while UC was associated with a higher rate of nephrolithiasis. Compared to UC, CD was associated with higher odds for all such kidney conditions. CONCLUSIONS: Patients with CD are more likely to have nephrolithiasis, tubulointerstitial nephritis, CKD at any stage, and moderate-to-severe CKD compared to non-IBD individuals.


Assuntos
Colite Ulcerativa , Doença de Crohn , Doenças Inflamatórias Intestinais , Nefrite Intersticial , Nefrolitíase , Insuficiência Renal Crônica , Adulto , Humanos , Pacientes Internados , Pontuação de Propensão , Estudos Retrospectivos , Doenças Inflamatórias Intestinais/complicações , Colite Ulcerativa/complicações , Doença de Crohn/complicações , Doença de Crohn/epidemiologia , Insuficiência Renal Crônica/etiologia , Insuficiência Renal Crônica/complicações , Nefrolitíase/epidemiologia , Nefrolitíase/complicações , Nefrite Intersticial/epidemiologia , Nefrite Intersticial/complicações
11.
BMC Public Health ; 23(1): 1525, 2023 08 10.
Artigo em Inglês | MEDLINE | ID: mdl-37563625

RESUMO

BACKGROUND: Existing evidence shows that there is an independent correlation between nephrolithiasis and gout, and hyperuricemia is the most important risk factor for gout. However, hyperuricemia was often used as an accompanying symptom of gout to explore its association with nephrolithiasis, there were few studies to explore whether hyperuricemia itself or serum uric acid (SUA) is related to the risk of nephrolithiasis. Evidence on the relationship between hyperuricemia and nephrolithiasis is still insufficient. METHODS: A total of 22,303 participants aged 30 to 79 years who participated in the China Multi-Ethnic Cohort (CMEC) study in Yunnan Province from May 2018 to September 2019 were included in the study. All participants received standardized face-to-face interviews, medical examinations, and biochemical examinations. Logistic regression was used to estimate the association between hyperuricemia and nephrolithiasis, and a restricted cubic spline (RCS) model was used to explore the dose-response relationship between SUA and the risk of nephrolithiasis. RESULTS: 14.5% of all participants were diagnosed with hyperuricemia, and 12.1% were diagnosed with nephrolithiasis. After adjusting for all potential confounders, the OR (95%CI) for nephrolithiasis in participants with hyperuricemia compared with participants without hyperuricemia was 1.464 (1.312,1.633), p < 0.001. Restricted cubic spline regression analysis showed that the risk of nephrolithiasis increased with the increase of SUA, and when the level of SUA is higher than 356 µmol/L in males and higher than 265 µmol/L in females, there is a dose-response relationship between the increase of SUA and the risk of nephrolithiasis in both males and females (p for nonlinearity = 0.1668, p for nonlinearity = 0.0667). CONCLUSION: Asymptomatic hyperuricemia is associated with an increased risk of developing nephrolithiasis. Before reaching the diagnostic criteria for hyperuricemia, the risk of nephrolithiasis rises with the increase in SUA. This suggests that controlling SUA levels may be significant for the prevention of nephrolithiasis.


Assuntos
Gota , Hiperuricemia , Nefrolitíase , Masculino , Feminino , Humanos , Hiperuricemia/complicações , Hiperuricemia/epidemiologia , Ácido Úrico , Estudos Transversais , China/epidemiologia , Gota/complicações , Gota/epidemiologia , Fatores de Risco , Nefrolitíase/epidemiologia , Nefrolitíase/complicações
12.
BMC Nephrol ; 24(1): 159, 2023 06 06.
Artigo em Inglês | MEDLINE | ID: mdl-37280532

RESUMO

BACKGROUND: Idiopathic Calcitriol Induced Hypercalcemia is a rare cause of a common condition of hypercalcemia. Hypercalcemia is most commonly the result of hyperparathyroidism and together with hypercalcemia of malignancy accounts for over 95% of cases. Idiopathic Calcitriol Induced Hypercalcemia can mimic hypercalcemia secondary to granulomatous diseases like sarcoidosis, but with apparent absences of both imaging and physical exam findings consistent with the disease. We report here a 51-year-old man who presented with recurrent nephrolithiasis, hypercalcemia, and acute kidney injury. CASE PRESENTATION: A 51-year-old man presented with severe back pain and mild hematuria. He had a history of recurrent nephrolithiasis over the course of a 15-year period. On presentation his calcium was elevated at 13.4 mg/dL, creatinine was 3.1 mg/dL (from baseline of 1.2), and his PTH was reduced at 5 pg/mL. CT abdomen and pelvis showed acute nephrolithiasis which was managed medically. Work up for the hypercalcemia included an SPEP which was normal, Vit D,1,25 (OH)2 was elevated at 80.4 pg/mL, CT chest showed no evidence of sarcoidosis. Management with 10 mg prednisone showed marked improvement in the hypercalcemia and he no longer had any symptoms of hypercalcemia. CONCLUSION: Idiopathic Calcitriol Induced Hypercalcemia is a rare cause of hypercalcemia. All reported cases benefit from more intensive long-term immunosuppression. This report helps consolidate the diagnosis of Idiopathic Calcitriol Induced Hypercalcemia and encourages researchers to better investigate its underlying pathogenesis.


Assuntos
Hipercalcemia , Nefrolitíase , Sarcoidose , Masculino , Humanos , Pessoa de Meia-Idade , Calcitriol/uso terapêutico , Hipercalcemia/diagnóstico , Hipercalcemia/tratamento farmacológico , Hipercalcemia/etiologia , Vitamina D , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico , Nefrolitíase/complicações
16.
Transfus Apher Sci ; 62(3): 103702, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37055329

RESUMO

Drug-induced nephrolithiasis can arise from insoluble components within medications or crystallization of metabolites due to changes in metabolism and urinary pH. The connection between drugs utilized for iron chelation therapy (ICT) and nephrolithiasis is not well understood. In this report, we describe two pediatric patients diagnosed with nephrolithiasis while undergoing treatment with the chelating agents deferasirox, deferiprone, and deferoxamine for iron overload secondary to repeat blood transfusion.


Assuntos
Sobrecarga de Ferro , Nefrolitíase , Talassemia beta , Humanos , Criança , Terapia por Quelação/efeitos adversos , Quelantes de Ferro/efeitos adversos , Deferasirox/efeitos adversos , Deferiprona/uso terapêutico , Desferroxamina/efeitos adversos , Benzoatos/efeitos adversos , Triazóis , Sobrecarga de Ferro/tratamento farmacológico , Sobrecarga de Ferro/etiologia , Nefrolitíase/induzido quimicamente , Nefrolitíase/complicações , Nefrolitíase/tratamento farmacológico , Ferro/uso terapêutico , Talassemia beta/terapia
17.
BMC Urol ; 23(1): 42, 2023 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-36959633

RESUMO

BACKGROUND: Nephrolithiasis as a feature of rheumatologic diseases is under recognized. Understanding presenting features, diagnostic testing is crucial to proper management. CASE PRESENTATION: A 32 year old woman with a history of recurrent complicated nephrolithiasis presented to a rheumatologist for a several month history of fatigue, dry eyes, dry mouth, arthralgias. She had a positive double-stranded DNA, positive SSA and SSB antibodies. She was diagnosed with Systemic Lupus erythematosus (SLE) and Sjogren's syndrome and was started on mycophenalate mofetil. Of relevance was a visit to her local emergency room 4 years earlier with profound weakness with unexplained marked hypokalemia and a non-anion gap metabolic acidosis. Approximately one year after that episode she developed flank pain and nephrocalcinosis. She had multiple issues over the ensuing years with stones and infections on both sides. Interventions included extracorporeal shockwave lithotripsy as well as open lithotomy and eventual auto-transplantation of left kidney for recurrent ureteric stenosis. 24 h stone profile revealed marked hypocitraturia, normal urine calcium, normal urine oxalate and uric acid. She was treated with potassium citrate. Mycophenolate was eventually stopped due to recurrent urinary tract infections and she was started on Belimumab. Because of recurrent SLE flares, treatment was changed to Rituximab (every 6 months) with clinical and serologic improvement. Her kidney stone frequency gradually improved and no further interventions needed although she continued to require citrate repletion for hypocitraturia. CONCLUSIONS: Nephrolithiasis can be a prominent and even presenting feature in Sjogrens syndrome as well as other rheumatologic diseases. Prompt recognition and understanding disease mechanisms is important for best therapeutic interventions for kidney stone prevention as well as treatment of underlying bone mineral disease.


Assuntos
Artrite Reumatoide , Cálculos Renais , Lúpus Eritematoso Sistêmico , Nefrolitíase , Humanos , Feminino , Adulto , Cálcio/urina , Nefrolitíase/complicações , Nefrolitíase/terapia , Cálculos Renais/metabolismo , Ácido Cítrico , Lúpus Eritematoso Sistêmico/complicações , Artrite Reumatoide/complicações
18.
Endocrinol Diabetes Nutr (Engl Ed) ; 70(1): 56-62, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36764749

RESUMO

BACKGROUND: It has been suggested that vitamin D deficiency is associated with worse clinical outcomes in primary hyperparathyroidism (PHPT). We aimed to evaluate the relationship between vitamin D deficiency and clinical, biochemical and metabolic parameters in PHPT patients. METHODS: A total of 128 patients with biochemically confirmed PHPT were included. Patients were categorized as vitamin D deficient if 25-OH vitamin D was <50nmol/L, or normal if vitamin D was ≥50nmol/L. Biochemical parameters, bone mineral densitometry (BMD), and urinary tract and neck ultrasonography were assessed. RESULTS: In the study group, 66 (51.6%) patients had vitamin D deficiency and 60 (48.4%) had normal vitamin D levels. Nephrolithiasis and osteoporosis were found in 26.6% and 30.5% of subjects, respectively. The prevalence of metabolic syndrome (MetS), obesity (BMI≥30kg/m2) and hypertension (HTN) were higher in the vitamin D deficient group when compared to the normal group (p=0.04, p=0.01 and p=0.03, respectively). There was no difference regarding the presence of nephrolithiasis and osteoporosis between the groups. The mean adenoma size was similar in both groups. CONCLUSIONS: Vitamin D deficiency was not associated with osteoporosis, nephrolithiasis, adenoma size or biochemical parameters in PHPT. However, vitamin D deficiency may be a risk factor for developing HTN and MetS in PHPT.


Assuntos
Adenoma , Hiperparatireoidismo Primário , Nefrolitíase , Osteoporose , Deficiência de Vitamina D , Humanos , Hiperparatireoidismo Primário/complicações , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/epidemiologia , Vitamina D , Osteoporose/etiologia , Osteoporose/complicações , Nefrolitíase/etiologia , Nefrolitíase/complicações , Adenoma/complicações
19.
Pediatr Nephrol ; 38(8): 2699-2709, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36662300

RESUMO

BACKGROUND: Pediatric urinary stone disease (USD) is a costly medical problem. This study aims to assess the clinical characteristics and outcomes of common and rare causes of pediatric USD. METHODS: A retrospective descriptive cohort study included all children < 13 years of age with confirmed USD admitted to the Children's University Hospital in Damascus, Syria, from January 2013 to December 2019. The study sample was divided into two groups based on etiologies: common and rare causes groups. RESULTS: We evaluated 235 patients; 147 of them were males, and the male-to-female ratio was 1.7:1. The common causes group consisted of 203 patients (mean age 3.52 ± 3.66 years) and mainly included metabolic disorders (45.5%) and anatomical abnormalities (22.3%), while the rare causes group included 32 cases (mean age 4.93 ± 4.08 years), 12 patients with uric acid stones (37.5%), 7 patients with cystinuria (21.9%), and primary hyperoxaluria in 5 patients (15.6%). In addition, 39.6% of study patients were born to consanguineous marriages. Sixty-two patients developed AKI, and eleven patients had chronic kidney disease (CKD). Patients with rare causes were more likely to have AKI, CKD, bilateral stones, and recurrent stones (P-value < 0.05). Stone analysis was performed on 83 patients, and the main stone types were calcium oxalate (34.9%), uric acid (14.4%), and struvite stones (12%). Surgery was the most performed treatment in 101 patients (56.7%). CONCLUSION: Patients with rare causes of pediatric USD are at a higher risk for severe complications and require early diagnosis and management. The high rate of uric acid stones in our society requires further evaluation for possible underlying causes. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Injúria Renal Aguda , Cálculos Renais , Nefrolitíase , Cálculos Urinários , Urolitíase , Humanos , Masculino , Criança , Feminino , Pré-Escolar , Lactente , Síria/epidemiologia , Estudos Retrospectivos , Estudos de Coortes , Ácido Úrico , Cálculos Urinários/epidemiologia , Cálculos Urinários/etiologia , Urolitíase/diagnóstico , Urolitíase/epidemiologia , Urolitíase/etiologia , Nefrolitíase/complicações , Injúria Renal Aguda/complicações , Cálculos Renais/etiologia
20.
Int Urol Nephrol ; 55(6): 1539-1547, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36645570

RESUMO

PURPOSE: To evaluate whether symptomatic recurrent nephrolithiasis leads to loss of kidney function. METHODS: Adults who presented to the Emergency Department at least twice with symptomatic and radiologically confirmed nephrolithiasis were retrospectively recruited. Primary endpoint was the change in glomerular filtration rate (GFR) between baseline and at the time of data collection. Secondary endpoints include GFR slope defined as the mean rate of change in GFR from baseline to the end of the study period. RESULTS: 240 patients had recurrent symptomatic nephrolithiasis. Median follow-up was 5.4 years. The median age of first acute presentation was 51.6 years and the median baseline serum creatinine (bsCr) was 85.5 umol/l. 17.5% (n = 42) had worsening GFR, with the average change in GFR of - 8.64 ml/min/1.73 m2 per year. Four patients progressed to ESKD requiring haemodialysis. 14.5% (n = 35) had calcium oxalate stones. Univariate analysis showed older patients (p < 0.001), more symptomatic stone episodes (p < 0.001) and non-calcium-containing stones (p < 0.001) were strongly associated with deteriorating kidney function. Age (p = 0.002) and number of acute stone episodes (p = 0.011) were significant predictive factors when unadjusted to co-morbidities. Age (p = 0.018) was the only predictive factor of worsening GFR when adjusted for co-morbidities. Average mean GFR slope was - 2.83/min/1.73 m2 per year. CONCLUSIONS: Recurrent symptomatic nephrolithiasis is associated with loss of kidney function, in older patients, increased episodes of symptomatic nephrolithiasis and non-calcium-containing stones. Age is the only predictive factor for progression to chronic kidney disease in this subgroup.


Assuntos
Cálculos Renais , Nefrolitíase , Insuficiência Renal Crônica , Adulto , Humanos , Idoso , Pessoa de Meia-Idade , Estudos de Coortes , Estudos Retrospectivos , Nefrolitíase/complicações , Taxa de Filtração Glomerular , Rim
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