Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 681
Filtrar
1.
Zhonghua Nei Ke Za Zhi ; 59(1): 23-28, 2020 Jan 01.
Artigo em Chinês | MEDLINE | ID: mdl-31887832

RESUMO

Objective: To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT). Methods: Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3'untranslated region (3'UTR) of GNA11 gene, respectively. Results: Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG:60.5% vs. 49.8%, GC: 35.5% vs. 41.6%, CC: 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)]. Conclusion: The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.


Assuntos
Subunidades alfa de Proteínas de Ligação ao GTP/genética , Predisposição Genética para Doença , Hipoparatireoidismo/genética , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , China , Subunidades alfa de Proteínas de Ligação ao GTP/metabolismo , Frequência do Gene , Genótipo , Humanos , Hipoparatireoidismo/diagnóstico , Polimorfismo de Nucleotídeo Único
2.
BMC Musculoskelet Disord ; 20(1): 362, 2019 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-31391033

RESUMO

BACKGROUND: Fahr's syndrome presenting multiple and symmetric calcification of basal ganglia and cerebral cortex is rare, and idiopathic hypoparatyroidism is known as one of the causes. The relationship between ossification of posterior longitudinal ligament (OPLL) and idiopathic hypoparatyroidism is also reported in a few cases. Here, we report a patient presenting concomitant Fahr's syndrome and thoracic OPLL developed by idiopathic hypoparatyroidism. CASE PRESENTATION: 53-year-old female patient presented myelopathic sign including gait disturbance and both leg weakness (Grade 3) for 4 months after slip down, and has the history of anti-epileptic medication for several years. Magnetic resonance imaging revealed cord compression by the mixed-type OPLL from T5 to T9, and decompressive surgery was planned. Sudden onset generalized tonic-clonic seizure attack developed before the surgery. Hypocalcemia (3.7 mg/dL) with QT prolongation on electrocardiogram, hypomagnesemia (1.4 mg/dL), hyperphosphatemia (7.7 mg/dL), hypoparathyroidism, and normal range of vitamin D was noted. Brain study showed Fahr's syndrome with multiple and symmetric calcification of basal ganglia, cerebral cortex, and cerebellum. Decompressive laminectomy was performed after transient correction of hypocalcemia. The myelopathic symptoms improved to normal walking by the 14-month follow-up. The cause of hypoparathyroidism was concluded to be idiopathic. CONCLUSION: Concomitant expression of Fahr's syndrome and OPLL related with idiopathic hypoparatyroidism is very rare. However, we recommend considering the possibility of hypoparathyroidism and Fahr's syndrome when we evaluate the patients with OPLL to avoid the risks of sudden onset seizure and cardiac arrhythmia due to cerebral lesions and hypocalcemia.


Assuntos
Doenças dos Gânglios da Base/etiologia , Calcinose/etiologia , Hipoparatireoidismo/complicações , Doenças Neurodegenerativas/etiologia , Ossificação do Ligamento Longitudinal Posterior/etiologia , Doenças dos Gânglios da Base/diagnóstico , Encéfalo/diagnóstico por imagem , Calcinose/diagnóstico , Descompressão Cirúrgica , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Ligamentos Longitudinais/diagnóstico por imagem , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Doenças Neurodegenerativas/diagnóstico , Ossificação do Ligamento Longitudinal Posterior/diagnóstico , Ossificação do Ligamento Longitudinal Posterior/cirurgia , Vértebras Torácicas , Tomografia Computadorizada por Raios X
3.
Scand J Immunol ; 90(5): e12809, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31322747

RESUMO

We evaluated 18 DiGeorge syndrome (DGS) patients and aimed to investigate the immunological changes in this population. DGS patients with low naive CD4+ T and CD8+ T cells were defined as high-risk (HR) patients, whereas patients with normal numbers of naive CD4+ and CD8+ T cells were defined as standard risk (SR) patients. Level of serum IgM, CD3+ T cell counts and percentages of class-switched memory B cells were significantly low in HR group compared to SR ones. Severe infections and persistent hypoparathyroidism were detected significantly higher in HR group. Patients with reduced percentages of class-switched B cells had earlier onset of infection, lower blood IgM, lower CD4+ and CD8+ T counts than patients with normal class-switched memory B cells. Decreased levels of IgM were associated with low numbers of naive CD4+ and recent thymic emigrants T cells. Monitoring the immune changes of patients with DGS would be useful to predict the severe phenotype of disease.


Assuntos
Linfócitos B/imunologia , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD8-Positivos/imunologia , Síndrome de DiGeorge/imunologia , Imunoglobulina M/sangue , Adolescente , Adulto , Criança , Pré-Escolar , Síndrome de DiGeorge/genética , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Switching de Imunoglobulina/imunologia , Memória Imunológica/imunologia , Lactente , Contagem de Linfócitos , Masculino
5.
BMJ Case Rep ; 12(5)2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31133546

RESUMO

A 31-year-old woman experienced tetany and was diagnosed with Hashimoto thyroiditis and hypoparathyroidism. At 33 years of age, her renal function gradually decreased. At 39 years of age, she moved to our hospital and was diagnosed with tubulointerstitial nephritis by renal biopsy. Simultaneously, she was diagnosed with Sjögren's syndrome by autoantibodies and salivary gland biopsy. At 40 years of age, based on hypoglycaemia and eosinophilia, she was suspected of adrenal insufficiency, and was diagnosed with primary adrenal insufficiency by both corticotropin stimulation and corticotropin-releasing hormone stimulation test. She was diagnosed as autoimmune polyglandular syndrome (APS) (Hashimoto thyroiditis and possible primary adrenal insufficiency) as well as primary hypoparathyroidism and Sjögren's syndrome, which are very rarely complicated in APS-2. Therefore, in this patient, it was helpful to pay attention for new onset of other autoimmune diseases.


Assuntos
Insuficiência Adrenal/diagnóstico , Doença de Hashimoto/diagnóstico , Hipoparatireoidismo/complicações , Poliendocrinopatias Autoimunes/diagnóstico , Síndrome de Sjogren/complicações , Insuficiência Adrenal/sangue , Insuficiência Adrenal/imunologia , Adulto , Autoanticorpos/sangue , Doenças Autoimunes , Diagnóstico Diferencial , Eosinofilia/diagnóstico , Eosinofilia/etiologia , Feminino , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Hipoparatireoidismo/diagnóstico , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/etiologia , Poliendocrinopatias Autoimunes/imunologia , Doenças Raras , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/imunologia
6.
Medicine (Baltimore) ; 98(17): e15390, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31027134

RESUMO

RATIONALE: Fahr's syndrome (FS) is a rare neurological and psychiatric disorder characterized by bilateral brain calcifications when a secondary cause of the calcification is found. PATIENT CONCERNS: A 53-year-old female patient diagnosed with FS for laminectomy because of ossification of posterior longitudinal ligament. She had a history of generalized tonic-clonic (GTC) seizure and medication with anticonvulsant drugs. She had gait disturbance, spasticity, bradykinesia, and diffuse calcifications in the basal ganglia, thalamus, cerebellum, and cerebral hemispheres on the brain computed tomography. On the preoperative examination, the serum and ionized calcium (Ca) were decreased to 3.7 and 2.22 mg/dL. Hypomagnesemia is combined with hypocalcemia. Furthermore, the level of parathyroid hormone was decreased to 2.18 pg/mL. DIAGNOSES: Due to the radiologic findings and laboratory test results, she was diagnosed with FS with primary hypoparathyroidism. INTERVENTIONS: The Ca and magnesium (Mg) had been corrected before surgery but the electrolytes revealed low level at the intraoperative period. The 300 mg of calcium chloride was administered at 2 times and 1200 mg of it were infused for 1 hour during intraoperative periods. In addition, total 4 g of Mg sulfate intravenously administered. We used rocuronium as a neuromuscular block and checked neuromuscular function by train-of-four monitoring. OUTCOMES: Residual neuromuscular blockade was reversed with pyridostigmine and her muscle power completely recovered. The patient was extubated successfully and no unpredictable events occurred. On the day following transfer, serum electrolytes remained low, and although Ca was continuously supplied, serum Ca did not recover to a normal level. The patient was medicated with anticonvulsant drugs but experienced GTC seizure 2 weeks after surgery. LESSONS: We presume that the pathophysiology of FS was related to primary hypoparathyroidism and hypomagnesemia. FS raises concerns associated with neuromuscular problems, spasticity, and seizure, and concerns of hypotension, heart failure, cardiac arrhythmia, and cerebrovascular attack during perioperative periods, among anesthesiologists because of hypocalcemia and vessel calcification. During the perioperative period, Ca levels should be closely monitored, and titrated Ca replacement therapy is recommended. The simultaneous correction of hypomagnesemia is of considerable importance when correcting hypocalcemia.


Assuntos
Anestesia Geral , Encefalopatias/terapia , Calcinose/terapia , Encéfalo/diagnóstico por imagem , Encefalopatias/diagnóstico , Calcinose/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/terapia , Laminectomia , Pessoa de Meia-Idade , Ossificação do Ligamento Longitudinal Posterior/cirurgia , Síndrome
7.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(3): 195-201, mar. 2019. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-182620

RESUMO

Introducción: El hipoparatiroidismo permanente es la complicación a largo plazo más prevalente tras una tiroidectomía total, siendo responsable de una importante morbilidad y de necesidad de tratamiento sustitutivo a largo plazo. El objetivo de este estudio fue determinar si el valor de la hormona paratiroidea intacta (PTHi) en el primer día postoperatorio tras una tiroidectomía total es un buen predictor de hipoparatiroidismo permanente. Material y métodos: Estudio retrospectivo de observación en el que se analizaron todos los pacientes intervenidos de tiroidectomía total entre enero de 2009 y diciembre de 2014. Se recogieron los valores de PTHi y calcio sérico en el primer día postoperatorio, y todos los pacientes tuvieron un seguimiento mínimo de un año. Resultados: Se incluyeron 481 pacientes con una edad media de 53±14 años, el 82% de los cuales eran mujeres. La causa más frecuente de tiroidectomía fue el bocio multinodular (75%), seguido del carcinoma papilar de tiroides (15%). La complicación precoz más frecuente fue la hipocalcemia transitoria (49%), y a largo plazo fue el hipoparatiroidismo permanente (6%). El estudio estadístico mediante curvas ROC mostró que la PTHi en el primer día postoperatorio es un buen predictor de hipoparatiroidismo permanente (área bajo la curva de 0,87; IC 95%: 0,84-0,91). Valores de 5pg/ml presentan una sensibilidad del 95%, una especificidad del 77%, un valor predictivo positivo del 21,6% y un valor predictivo negativo del 99,6%. Conclusiones: La PTHi en el primer día postoperatorio de la tiroidectomía total es un predictor útil de hipoparatiroidismo permanente gracias a su alto valor predictivo negativo. Valores de PTHi>5 pg/ml excluyen prácticamente la presencia de hipoparatiroidismo permanente


Background: Permanent hypoparathyroidism is the most common long-term complication after total thyroidectomy, causing significant morbidity and requiring long-term replacement therapy. Our study objective was to assess whether intact parathyroid hormone (iPTH) levels on the first day after total thyroidectomy are a good predictor of permanent hypoparathyroidism. Patients and methods: A retrospective observational study of all patients undergoing total thyroidectomy between January 2009 and December 2014. iPTH and calcium levels were measured the first day after surgery. Patients were followed up for at least one year after surgery. Results: The study group consisted of 481 patients with a mean age of 53±14 years, 82% of them females. The most common reason for thyroidectomy was multinodular goiter (75%), followed by papillary thyroid cancer (15%). Transient hypocalcemia was the most common early complication after total thyroidectomy (49%), and permanent hypoparathyroidism was the most common long-term complication (6%). ROC curve analysis showed that iPTH level on the first postoperative day was a good predictor of permanent hypoparathyroidism (area under the curve 0.87; 95% CI: 0.84-0.91). Cut-off iPTH levels of 5pg/mL had 95% sensitivity, 77% specificity, 21.6% positive predictive value, and 99.6% negative predictive value. Conclusions: iPTH level on the first day after total thyroidectomy is a useful predictor of permanent hypoparathyroidism because of its high negative predictive value. Serum iPTH levels >5pg/mL virtually exclude presence of permanent hypoparathyroidism


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Masculino , Feminino , Idoso , Hormônio Paratireóideo/análise , Hipoparatireoidismo/diagnóstico , Período Pós-Operatório , Estudos Retrospectivos , Curva ROC , Valor Preditivo dos Testes , Hipocalcemia/complicações , Análise Estatística
8.
Front Horm Res ; 51: 127-138, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30641517

RESUMO

The term hypoparathyroidism encompasses a huge group of disorders all characterized by an abnormal mineral homeostasis determined by inadequate secretion of parathyroid hormone. Postsurgical hypoparathyroidism is a complication of neck surgery (thyroidectomy, parathyroidectomy, lymph node, and cancer neck dissection), closely related to the extent of the surgical procedure and the experience of the surgeon. If lasting more than 6 months it is defined as chronic hypoparathyroidism, requiring life-long replacement therapy with active vitamin D metabolites. All the other forms of nonsurgical hypoparathyroidism, previously referred to as idiopathic hypoparathyroidism, have several causes, the majority of them genetic, which can be grouped into 3 main categories: disorder of parathyroid development, disorders of parathyroid function, and acquired damage to the parathyroids. Hypoparathyroidism can manifest as the sole disease in an individual (isolated hypoparathyroidism) or be associated with other manifestations within complex syndromes (syndromic hypoparathyroidism). Functional hypoparathyroidism, which may be caused by magnesium disturbances, has always to be ruled out before commencing the genetic diagnostic workup in nonsurgical forms. The search for signs of autoimmunity can drive the diagnosis towards an autoimmune pathogenesis of the disease, since a routine assessment of parathyroid autoantibodies is neither available nor specific.


Assuntos
Hipoparatireoidismo/classificação , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Humanos
9.
Front Horm Res ; 51: 109-126, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30641528

RESUMO

The regulation of plasma calcium levels is essential for the normal physiologic function of every cell. Parathyroid hormone (PTH) is the principal regulator of serum calcium and phosphate homeostasis. PTH is synthesized and secreted by the parathyroid chief cells in the parathyroid glands primarily in response to a decline in serum calcium levels. The causes of hypocalcemia can be broadly classified as inadequate PTH or vitamin D production, PTH resistance, or miscellaneous causes. The term "hypoparathyroidism" refers to a metabolic disorder in which hypocalcemia and hyperphosphatemia occur either from a failure of the parathyroid glands to secrete sufficient amounts of biologically active PTH, or from an inability of PTH to appropriately induce a biological response in its target tissues. The most common cause of acquired hypoparathyroidism is surgery, accounting for 75% of all cases. Nonsurgical causes of hypoparathyroidism include autoimmune, genetic variants, infiltrative, metastatic, radiation, mineral deposition, magnesium deficiency or excess or idiopathic. The objective of this chapter is to provide a comprehensive review of the physiology of calcium homeostasis, the causes of hypocalcemia, and the epidemiology of hypoparathyroidism. It is very important to determine the underlying cause of the hypoparathyroidism in order to effectively treat our patients and improve quality of life.


Assuntos
Hipocalcemia , Hipoparatireoidismo , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/etiologia , Hipocalcemia/metabolismo , Hipocalcemia/terapia , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Hipoparatireoidismo/metabolismo , Hipoparatireoidismo/terapia
10.
Arch Pediatr ; 26(2): 102-107, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30638765

RESUMO

BACKGROUND AND OBJECTIVES: Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. The molecular pathology of this syndrome was shown to be due to a mutation in the tubulin-specific chaperone E (TBCE) gene in chromosomal area 1q42-q43. We aimed to detect and confirm the common mutation responsible for SSS in Tunisian patients and review the literature in order to create a set of clinical diagnostic criteria that might provide appropriate indications for molecular testing. METHODS: Three Tunisian patients with clinical feature of SSS were examined via direct Sanger sequencing of exon 3 of the TBCE gene. RESULTS: Mutation analysis of the TBCE gene revealed the common 12-bp (155-166del) deletion in three new patients, thus raising the number of reported SSS patients to 73. Reviewing the literature, we suggest a scoring system that assigns one point each for major criteria and one half point for minor criteria. INTERPRETATION AND CONCLUSIONS: SSS is an autosomal recessive disorder found in the Middle Eastern population with an estimated incidence of 1 per 40,000-100,000 live births in Saudi Arabia. Reviewing the literature on both its clinical and biochemical characteristics, we suggest for the first time, based on defined major and minor SSS criteria, a clinical scoring system for the diagnosis of SSS. On the one hand, an established scoring system will provide appropriate indications for molecular testing and, on the other hand, reviewed data on SSS will help delineate the phenotype and draw a distinction between differential diagnoses.


Assuntos
Anormalidades Múltiplas/diagnóstico , Transtornos do Crescimento/diagnóstico , Hipoparatireoidismo/diagnóstico , Deficiência Intelectual/diagnóstico , Chaperonas Moleculares/genética , Osteocondrodisplasias/diagnóstico , Convulsões/diagnóstico , Anormalidades Múltiplas/genética , Consenso , Feminino , Marcadores Genéticos , Transtornos do Crescimento/genética , Humanos , Hipoparatireoidismo/genética , Lactente , Recém-Nascido , Deficiência Intelectual/genética , Masculino , Osteocondrodisplasias/genética , Convulsões/genética , Deleção de Sequência , Tunísia
11.
Hormones (Athens) ; 18(1): 55-63, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29876797

RESUMO

Hypoparathyroidism is a relatively rare endocrine disease characterised by either null or inappropriately low secretion of parathyroid hormone (PTH) for serum calcium levels. The other main laboratory findings include hypocalcaemia, inappropriately normal or high urine calcium excretion and hyperphosphataemia with low urine phosphate excretion. The management of hypoparathyroidism should be tailored to each individual case, which makes it a demanding undertaking in everyday clinical practice. In this review, we sought to focus on the diagnostic approach of hypoparathyroidism and the therapeutic challenges of the disease from a clinical perspective. Conventional treatment with vitamin D analogues and calcium salts is no longer the only available treatment, since replacement treatment with PTH(1-84) has recently been approved for the disease. However, the optimal treatment schedule is yet to be defined.


Assuntos
Terapia de Reposição Hormonal , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/tratamento farmacológico , Hipoparatireoidismo/metabolismo , Hormônio Paratireóideo/administração & dosagem , Hormônio Paratireóideo/metabolismo , Humanos
12.
Auris Nasus Larynx ; 46(5): 808-812, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30396722

RESUMO

Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound analysis revealed bilateral multicystic dysplastic kidneys. Because she had difficulty hearing, we sequenced GATA3 and determined that she had a c.708_709insC (p.Ser237Glnfs*66) allelic variant in exon 3. As a result, we found a family of this disease. Each family member, including her grandfather, mother, and two siblings, had HDR syndrome of varying clinical penetrance. We found a craniofacial anomaly, congenital choanal atresia, which was inherited as an autosomal dominant trait. Hypocalcemia coupled with vitamin D deficiency, triggered by carbamazepine treatment, ultimately revealed the proband's childhood- onset HDR syndrome. Pure-tone audiometry revealed different severities of deafness as well as the progression of sensory hearing loss. However, auditory brainstem response for hearing screening is probably insufficient for ascertaining HDR syndrome in the early stages of life. We presented new clinical clues to diagnose the HDR syndrome.


Assuntos
Atresia das Cóanas/genética , Fator de Transcrição GATA3/genética , Perda Auditiva Neurossensorial/genética , Hipoparatireoidismo/genética , Nefrose/genética , Adulto , Anticonvulsivantes/efeitos adversos , Audiometria de Tons Puros , Carbamazepina/efeitos adversos , Criança , Atresia das Cóanas/complicações , Atresia das Cóanas/diagnóstico , Epilepsia/tratamento farmacológico , Potenciais Evocados Auditivos do Tronco Encefálico , Feminino , Avós , Haploinsuficiência , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Hipocalcemia/induzido quimicamente , Hipocalcemia/etiologia , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Mães , Triagem Neonatal , Nefrose/complicações , Nefrose/diagnóstico , Linhagem , Irmãos , Tomografia Computadorizada por Raios X , Deficiência de Vitamina D/induzido quimicamente
14.
Am J Case Rep ; 19: 1430-1433, 2018 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-30504755

RESUMO

BACKGROUND Idiopathic basal ganglia calcification, also known as Fahr's disease or Fahr's syndrome, is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia. Here, we report a case of Fahr's syndrome with calcification of the basal ganglia due to hypoparathyroidism in a patient with seizures. CASE REPORT A 52-year-old male patient visited our clinic with seizures. Brain computed tomography (CT) showed bilateral symmetrical calcifications in cerebellar white matter, the corpus striatum, the posterior thalami, and the centrum semiovale of both cerebral hemispheres. He had symptoms of hypocalcemia and low parathyroid hormone levels. The patient was diagnosed with Fahr's syndrome due to primary hypoparathyroidism. He underwent calcium supplementation and calcifediol treatment. His symptoms improved, and he was discharged from the hospital. CONCLUSIONS In patients with hypocalcemia accompanied by parathyroid dysfunction, neurological examination and CT should be performed to confirm abnormal intracranial calcification.


Assuntos
Doenças dos Gânglios da Base/diagnóstico , Calcinose/diagnóstico , Hipoparatireoidismo/complicações , Convulsões/etiologia , Encéfalo/diagnóstico por imagem , Humanos , Hipoparatireoidismo/diagnóstico , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
15.
Tunis Med ; 96(8-9): 472-476, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30430523

RESUMO

BACKGROUND: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues. AIM: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism. METHODS: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013. RESULTS: Eight patients (5 females and 3 males) were diagnosed with hypoparathyroidism during 20 years's period. The median age at the onset of first symptoms was 17,5 months (15 days- 5 years and 10 months). Seizures were the most commonly presenting symptom and were seen in seven cases. Eight patients were diagnosed with hypoparathyroidism (Di-Georges syndrome: one case, Sanjad Sakati syndrome: 3 case, kearns sayre syndrome: 1 case, autoimmune polyendocrinopathy candidiasis- ectodermal dystrophy: one case, idiopathic hypoparathyroidism: two cases. Conventional treatment was based on calcium and vitamin D analogs. The average of follow up was 5 years. Nephrocalcinosis was noted in two patients. The death occurred in five patients; it was related to hypocalcaemia in one patient. CONCLUSION: The diagnosis of hyperparathyroidism is easy; it's established on the association of hypocalcaemia and hyperphosphatemia. Etiologic approach is based on molecular findings. Vitamin D analog treatment of hypoparathyroidism in children involves the challenge, of adjusting treatment dosage to minimize both symptomatic hypocalcemia and asymptomatic, but potentially kidney-damaging, hypercalciuria causing nephrocalcinosis and renal insufficiency.


Assuntos
Hipoparatireoidismo/epidemiologia , Hipoparatireoidismo/patologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Idade de Início , Causas de Morte , Criança , Pré-Escolar , Estudos de Coortes , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/patologia , Evolução Fatal , Feminino , Transtornos do Crescimento/complicações , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/patologia , Humanos , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Estudos Longitudinais , Masculino , Osteocondrodisplasias/complicações , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/patologia , Estudos Retrospectivos , Convulsões/complicações , Convulsões/diagnóstico , Convulsões/patologia
16.
Tunis Med ; 96(8-9): 490-494, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30430526

RESUMO

AIM: We describe the clinical and etiological profile of patients with Fahr's syndrome (FS). METHODS: Charts of sixteen patients diagnosed with FS between 1999 and 2014 were retrospectively assessed. RESULTS:   The mean age at diagnosis was 44.68 years (11-67 years). The most main presenting neurological features were seizures in 6 cases, headaches in 5 cases and parkinson's syndrome in 3 cases. Psychiatric disorders were observed in 2 patients including memory loss and iritability. Hypocalcemia clinical features were observed in 7 cases. The mean value of hypocalcemia was 1.69 mmol/l. Etiologies included idiopathic hypoparathyroidism in 4 patients, pseudohypoparathyroidism in 5 cases, secondary hypoparathyroidism, isolated hypovitaminosis D and cerebral radiotherapy in one case for each and Fahr's disease in 4 patients.  Oral calcium and vitamin D substitution were started in patients with parathyroid disturbances with favorable outcome. CONCLUSION: In this report, we propose to discuss the clinical manifestations of FS, its etiologies especially parathyroid disturbances and its therapeutic modalities.


Assuntos
Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/epidemiologia , Doenças dos Gânglios da Base/etiologia , Calcinose/diagnóstico , Calcinose/epidemiologia , Calcinose/etiologia , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/epidemiologia , Doenças Neurodegenerativas/etiologia , Adolescente , Adulto , Idade de Início , Idoso , Transtornos Cerebrovasculares/complicações , Transtornos Cerebrovasculares/diagnóstico , Transtornos Cerebrovasculares/epidemiologia , Criança , Comorbidade , Feminino , Humanos , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores Sexuais , Tunísia/epidemiologia , Adulto Jovem
17.
Best Pract Res Clin Endocrinol Metab ; 32(5): 639-656, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30449546

RESUMO

Calcium is vital for life, and extracellular calcium concentrations must constantly be maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs in conjunction with multiple disorders and can be life-threatening if severe. Symptoms of acute hypocalcemia include neuromuscular irritability, tetany, and seizures, which are rapidly resolved with intravenous administration of calcium gluconate. However, disorders that lead to chronic hypocalcemia often have more subtle manifestations. Hypoparathyroidism, characterized by impaired secretion of parathyroid hormone (PTH), a key regulatory hormone for maintaining calcium homeostasis, is a classic cause of chronic hypocalcemia. Disorders that disrupt the metabolism of vitamin D can also lead to chronic hypocalcemia, as vitamin D is responsible for increasing the gut absorption of dietary calcium. Treatment and management options for chronic hypocalcemia vary depending on the underlying disorder. For example, in patients with hypoparathyroidism, calcium and vitamin D supplementation must be carefully titrated to avoid symptoms of hypocalcemia while keeping serum calcium in the low-normal range to minimize hypercalciuria, which can lead to renal dysfunction. Management of chronic hypocalcemia requires knowledge of the factors that influence the complex regulatory axes of calcium homeostasis in a given disorder. This chapter discusses common and rare disorders of hypocalcemia, symptoms and workup, and management options including replacement of PTH in hypoparathyroidism.


Assuntos
Hipocalcemia , Administração Intravenosa , Conservadores da Densidade Óssea/administração & dosagem , Cálcio/sangue , Suplementos Nutricionais , Terapia de Reposição Hormonal/métodos , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/etiologia , Hipocalcemia/terapia , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/terapia , Hormônio Paratireóideo/sangue , Hormônio Paratireóideo/uso terapêutico , Valores de Referência , Vitamina D/sangue
18.
Endocrinol Metab Clin North Am ; 47(4): 759-770, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30390811

RESUMO

Hypoparathyroidism is associated with a spectrum of clinical manifestations in the acute and chronic settings, from mild to debilitating. Although the acute symptoms of hypocalcemia are primarily due to neuromuscular irritability, the chronic manifestations of hypoparathyroidism may be due to the disease itself or to complications of therapy or to both. The chronic complications of hypoparathyroidism can affect multiple organ systems, including the renal, neurologic, neuropsychiatric, skeletal, and immune systems. Further research is needed to determine the pathophysiology of complications in hypoparathyroidism and whether interventions can decrease the risk of these complications.


Assuntos
Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Calcinose/etiologia , Humanos , Hipocalcemia/etiologia , Hipoparatireoidismo/terapia
19.
Cir Cir ; 86(6): 475-480, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30361720

RESUMO

Objetivo: Análisis de los valores de hormona paratiroidea (PTH) intranodular obtenidos por punción con aguja fina como factor predictivo de hipoparatiroidismo posoperatorio. Método: De los 157 pacientes a los que se realizó la medición de la PTH intranodular, se estudiaron 37 que fueron intervenidos quirúrgicamente, estableciendo 15 variables para analizar: edad, sexo, tiempo de evolución, tamaño, cirugía de tiroides asociada, tratamiento preoperatorio con calcimiméticos, litiasis renal, densitometría ósea, aclaramiento de creatinina, calcio y PTH preoperatorios, PTH determinada tras punción con aguja fina, descenso de la PTH intraoperatoria, calcio posoperatorio y malignidad de la tumoración. Estas se compararon con la prueba de ji al cuadrado o el test exacto de Fisher, siendo significativa una p < 0.05, construyéndose así un análisis de regresión logística. Resultados: El uso de calcimiméticos previo a la cirugía, la PTH preoperatoria > 88 pg/dl, el calcio preoperatorio > 12 mg/dl, los valores de PTH intranodular > 2700 pg/dl, el descenso de la PTH intraoperatoria a < 15 pg/dl y el calcio posoperatorio < 8,5 mg/dl fueron variables independientes significativas en el análisis univariante (p < 0.05) para la predicción del hipoparatiroidismo posoperatorio. Conclusiones: Los valores de PTH intranodular pueden predecir qué pacientes tienen mayor riesgo de sufrir un hipoparatiroidismo posoperatorio. Este factor debe tenerse en cuenta durante el estudio y el seguimiento de los pacientes para identificar precozmente posibles complicaciones. Objective: To analize if parathyroid hormone (PTH) washout levels can be considered a predictive factor of postoperative hypoparathyroidism and determine its importance relative to other features already known as intraoperative PTH, Ca and PTH preoperative, and others. Method: Of the 157 patients to whom a fine needle aspiration (FNA) biopsy with intranodular parathyroid hormone level measurement was performed (washout PTH) 37 who underwent surgery were studied. 15 variables were taken into account when selecting patients for this study: age, gender, evolution length, size, associated thyroid surgery, preoperative treatment with calcimimetics, presence of renal lithiasis, bone densitometry alterations, creatine clearance, preoperative calcium and PTH levels, PTH scores obtained by fine needle aspiration, intraoperative PTH decrease, postoperative calcium levels and tumour malignancy. We compare the nominal values, using the Chi squared or the exact Fisher test, where p < 0.05 was considered statistically significant and perform a logistic regression analysis. Results: The use of calcimimetics prior to surgery, the preoperative PTH level above 88 pg/dl, the preoperative calcium above 12 mg/dl, washout PTH above 2700 pg/dl, intraoperative PTH level decrease below 15 pg/dl, and postoperative calcium levels under 8.5 mg/dl were all independently significant variables in the univariant analysis (p < 0.05) in order to establish an early postoperative hypoparathyroidism. The rest of the variables were not statistically significative. Conclusion: The PTH washout levels can predict the appearance of postoperative hypoparathyroidism. This factor must be taken into account during the study and follow-up to identify possible complications and establish an adequate treatment on time.


Assuntos
Hipertireoidismo/cirurgia , Hipoparatireoidismo , Glândulas Paratireoides/química , Glândulas Paratireoides/patologia , Hormônio Paratireóideo/análise , Complicações Pós-Operatórias , Biópsia por Agulha Fina , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Valor Preditivo dos Testes , Estudos Retrospectivos
20.
Am J Otolaryngol ; 39(6): 746-750, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30197157

RESUMO

PURPOSE: To assess the value of 24-hour intact parathyroid hormone (iPTH), serum calcium, and decreases in both were evaluated against preoperative values (iPTH and serum calcium decline) and used to determine the existence of permanent hypoparathyroidism (pHPP) after total thyroidectomy (TT). MATERIALS AND METHODS: The clinical data of patients who underwent total thyroidectomy in our hospital between September 2014 and July 2015 were retrospectively analyzed. RESULTS: There were 42 cases with normal parathyroid function, 58 cases with temporary HPP, and 10 cases with pHPP. When iPTH and serum calcium were administered at 24 h after surgery, iPTH decline and calcium decline differed significantly among the three groups above (P < .01). The accuracy and positive predictive value of 24 h iPTH for pHPP were higher than any one of the others. The sensitivity, specificity, false positive rate, and accuracy were 100%, 95%, 33.33%, and 94.45%, respectively. The AUC was 0.982 when 24-hour iPTH was equal to or <3.15 pg/mL. The use of blood calcium equal to or <2.03 mmol/L (8.12 mg/dL) pointed to a diagnosis of pHPP, with a sensitivity of 100%, specificity of 63%, false positive rate of 78.72%, and accuracy of 66.36%. CONCLUSIONS: Measurement of the postoperative 24-h intact parathyroid hormone and serum calcium concentration can predict the occurrence of permanent hypoparathyroidism and the former is more advantageous. Postoperative 24-h intact parathyroid hormone equal to or <3.15 pg/mL is a reliable index, and it is suitable for the prediction of postoperative permanent hypoparathyroidism.


Assuntos
Cálcio/sangue , Hipoparatireoidismo/etiologia , Hormônio Paratireóideo/sangue , Complicações Pós-Operatórias/etiologia , Doenças da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos , Adulto , Feminino , Humanos , Hipoparatireoidismo/sangue , Hipoparatireoidismo/diagnóstico , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/sangue , Complicações Pós-Operatórias/diagnóstico , Valor Preditivo dos Testes , Estudos Retrospectivos , Doenças da Glândula Tireoide/sangue , Fatores de Tempo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA