Hypoparathyroidism: update of guidelines from the 2022 International Task Force

ABSTRACT The 2022 International Task Force guidelines for chronic hypoparathyroidism will be published within several months in the Journal of Bone and Mineral Research. These guidelines update the original guidelines published in 2016, and include new information from literature published since then. Chronic postsurgical hypoparathyroidism is now defined as lasting for at least 12 months after surgery, rather than 6 months. Chronic postsurgical hypoparathyroidism may be predicted by serum PTH <10 pg/mL in the first 12-24 hours after surgery. The most common symptoms and complications of chronic hypoparathyroidism based on the literature are summarized in detail. How to monitor and manage patients with hypoparathyroidism is described in detail where recommendations can be given. These guidelines are intended to frame the diagnosis and care of patients with chronic hypoparathyroidism for at least the next five years.

Atypical clinical presentation of distal renal tubular acidosis: a case report registered in Amazonas, Brazil / Apresentação clínica atípica da acidose tubular renal distal: relato de caso registrado no Amazonas, Brasil

ABSTRACT We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution. In subsequent investigations, the patient also had nephrocalcinosis, nephrolithiasis, hyperchloremic metabolic acidosis and persistent alkaline urinary pH. The findings were consistent with distal renal tubular acidosis as the cause of hypokalemic paralysis. Clinical findings, immunological tests and the result of skin biopsy suggested primary Sjögren's syndrome as an underlying cause. The patient developed azotemia due to obstructive nephrolithiasis. All the features presented in this case are an unusual manifestation of distal renal tubular acidosis; so far, we are not aware of a similar report in the literature.

RESUMO Relatamos um caso incomum de uma jovem de 24 anos com história de episódios recorrentes de paralisia hipocalêmica e lesões cutâneas em membros inferiores e nádegas, ambas de evolução aguda. Em investigações subsequentes, verificou-se que a paciente apresentava nefrocalcinose, nefrolitíase, acidose metabólica hiperclorêmica e pH urinário persistentemente alcalino. Os achados foram consistentes com acidose tubular renal distal como causa da paralisia hipocalêmica. Achados clínicos, exames imunológicos e o resultado da biópsia de pele foram compatíveis com a síndrome de Sjögren primária como causa subjacente. A paciente evoluiu com azotemia em decorrência da nefrolitíase obstrutiva. Todas as características apresentadas nesse caso são uma manifestação incomum de acidose tubular renal distal; até o momento, não temos conhecimento de um relato semelhante na literatura.

Acidosis tubular renal distal. Serie de casos y revisión narrativa / Distal renal tubular acidosis: case series report and literature review

Resumen La acidosis tubular renal distal es causada por un defecto en la excreción de iones de hidrogeno a nivel tubular distal, lo que aumenta el pH de la orina y disminuye el pH plasmático; esta es una enfermedad con varias manifestaciones clínicas asociadas. En este artículo se hace una revisión profunda sobre la acidosis tubular renal distal y se presenta el caso de tres hermanos (dos hombres y una mujer) con la entidad, siendo este uno de los primeros casos familiares reportados en Colombia. Los tres pacientes recibieron el diagnóstico durante el período de lactancia, presentaron nefrocalcinosis y tuvieron buena respuesta a la terapia con álcali iniciada de forma temprana, logrando eventualmente su suspensión. De manera curiosa, uno de los pacientes también presentó deficiencia de mevalonato quinasa con hiperinmunoglobulinemia D, una alteración no descrita con anterioridad. Esta asociación y la aparente falta de necesidad de continuar el manejo con álcali son atípicas a la luz del conocimiento actual, mereciendo especial consideración.

Abstract The distal renal tubular acidosis presents due to a defect in the excretion of hydrogen ions at the distal tubular level, causing an increase in the pH of the urine and a decrease in the plasma pH, with several associated clinical manifestations. This article makes a thorough review of distal renal tubular acidosis and presents the case of three siblings with the entity, two men and one woman, this being one of the first family cases reported in Colombia. All three received the diagnosis during the lactation period, presented nephrocalcinosis and good response to the alkali therapy started early, eventually achieving their suspension. Interestingly, one of them also presented deficiency mevalonate-kinase with hiperinmunoglobulinemia D, alteration not previously described. This association and the apparent lack of need for continued management with alkali are atypical in the light of current knowledge, deserving special consideration.

Hiperoxaluria primaria tipo 2 y oxalosis sistémica: Reporte de caso / Primary hyperoxaluria type 2 and systemic oxalosis: A case report

La hiperoxaluria primaria tipo 2 es una enfermedad rara caracterizada por sobreproducción de oxalato por una deficiencia enzimática intrahepática, lo que lleva a litiasis renal, nefrocalcinosis y daño renal crónico. Varón de 17 años con antecedentes de infecciones urinarias, y litiasis renal desde los 6 años. Desarrolló insuficiencia renal crónica terminal a los 11 años ingresando a terapia de diálisis peritoneal crónica ambulatoria. Durante su evolución presentó dolor a nivel de la columna vertebral y grandes articulaciones como tobillos, rodillas y hombros, deformación progresiva de las articulaciones distales de las manos. La resonancia magnética de columna reporto aplastamiento de cuerpos vertebrales en D8 y D9. La biopsia ósea de vértebra mostró depósito de cristales de oxalato de calcio. El estudio genético confirmó el diagnóstico de hiperoxaluria primaria tipo 2, esta enfermedad debe sospecharse en niños que forman cálculos a temprana edad, sería el primer caso reportado en Perú.

Primary hyperoxaluria type 2 is a rare disease characterized by over production of oxalate due to a deficiency of an intra hepatic enzyme leading to renal lithiasis, nephrocalcinosis and chronic kidney damage. We report the case of 17-year-old male patients with history of urinary tract infections and renal lithiasis since the age of 6 years. The patient developed end-stage kidney disease at the age of 11 years receiving chronic ambulatory peritoneal dialysis. He developed back pain and polyarthralgia of the ankles, knees, shoulders and progressive deformity of the hands. The magnetic resonance of the spine revealed flattening of D9-D9. Bone biopsy of the affected area showed presence of calcium oxalate. A genetic study confirmed the diagnosis of primary hyperoxaluria type 2. This entity should be suspected in children with renal stones at an early age, this may be the first case in Peru.

Acidosis tubular renal distal hereditaria, diagnóstico en hermanos: A propósito de 2 casos pediátricos / Distal hereditary renal tubular acidosis, diagnosis in siblings: About 2 pediatric cases

La acidosis tubular renal distal es el tipo más frecuente de acidosis tubular renal en pediatría y puede ser hereditario. Se debe a una incapacidad del riñón para excretar iones de hidrógeno, en ausencia de deterioro de la función renal, y ocurre con acidosis metabólica hiperclorémica con brecha aniónica (anion gap) normal. Los síntomas pueden ser retraso del crecimiento, vómitos, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipokalemia. A menudo, se acompaña de deterioro auditivo neurosensorial. Corregir la acidosis puede tener una variedad de beneficios, como restaurar el crecimiento normal, disminuir la hipokalemia, estabilizar o evitar la nefrocalcinosis y disminuir el riesgo de osteopenia. El diagnóstico oportuno y el tratamiento adecuado de los pacientes hacen que permanezcan asintomáticos y sean capaces de llevar una buena calidad de vida. Se presentan los casos de dos hermanos afectados por acidosis tubular renal distal, su proceso diagnóstico, tratamiento y seguimiento actual.

Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. It is due to an inability in the kidney to excrete hydrogen ion (H+), in the absence of deterioration of renal function, and it is accompanied by hyperchloremic metabolic acidosis with normal anion gap. The symptoms can be growth retardation, vomiting, constipation, lack of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and even muscle paralysis due to hypokalemia. It is often accompanied by sensorineural hearing impairment. Correcting acidosis can have a variety of benefits such as restoring normal growth, decreasing hypokalemia, stabilizing or preventing nephrocalcinosis and decreasing the risk of osteopenia. Timely diagnosis and adequate treatment of patients make them remain asymptomatic and able to lead a good quality of life. We present the cases of two siblings affected by distal renal tubular acidosis, its diagnostic process, treatment and current follow-up.

Progress in the diagnosis and treatment of hereditary nephrolithiasis and/or nephrocalcinosis in children / 国际儿科学杂志

Hereditary nephrolithiasis/nephrocalcinosis in children is a rare disease, the incidence of which is not clear for the time being.Due to the lack of typical symptoms and signs, missed diagnosis, misdiagnosis and delayed diagnosis are very common, some patients have already progressed to end-stage renal disease by the time of definite diagnosis.With the rapid development of molecular diagnostic technology, considerable progress have been made in this kind of disease.This article summarizes the disease classification and recent advances in the diagnosis and treatment of hereditary nephrolithiasis/nephrocalcinosis in children, aiming at improving clinicians′ understanding of this kind of disease and providing help for its early diagnosis and treatment.

Caracterización fenotípica del síndrome amelogénesis imperfecta­nefrocalcinosis: una revisión / Phenotypic characterization of amelogenesis imperfectanephrocalcinosis syndrome: a review

La Amelogénesis Imperfecta (AI) es alteración de la estructura y apariencia del esmalte dental de origen genético, puede presentarse como defecto aislado o sistémico. El Síndrome Amelogénesis imperfecta­Nefrocalcinosis (OMIM # 204690), también conocido como Síndrome Esmalte-Renal (ERS, en inglés), se caracteriza por la presencia de AI de tipo hipoplásico, hiperplasia gingival con mineralizaciones ectópicas, retraso y/o ausencia de la erupción dental y Nefrocalcinosis. Este síndrome es asociado a mutaciones autosómicas recesivas del gen FAM20A. El objetivo de esta revisión es exponer las características clínicas y fenotípicas de pacientes con el Síndrome Amelogénesis imperfecta­ Nefrocalcinosis. La obtención del material fue realizado mediante una búsqueda electrónica en las bases de datos MEDLINE (PubMed), EBSCO- Host y Scopus (ScienceDirect). Los resultados confirman la escasa frecuencia de casos clínicos con el Síndrome Amelogénesis imperfecta­Nefrocalcinosis. Las características clínicas y fenotípicas se exponen de manera clara, sencilla y precisa. Se recomienda a los odontólogos generales y odontólogos pediátricos que al diagnosticar una AI, particularmente de tipo hipoplásico, realicen una detallada historia médica personal - familiar y contemplen una interconsulta con el servicio de nefrología que permita diagnosticar o realizar un seguimiento al estado renal del paciente de una forma preventiva.

Amelogenesis Imperfecta (AI) is an alteration of the structure and appearance of dental enamel of genetic origin that can occur as an isolated or systemic defect. The Amelogenesis Imperfecta-Nefrocalcinosis Syndrome (OMIM # 204690), also known as Enamel-Renal Syndrome (ERS), is characterized by the presence of hypoplastic AI, gingival hyperplasia with ectopic mineralization, delayed tooth eruption and Nephrocalcinosis. This syndrome is associated with autosomal recessive mutations of the FAM20A gene. The aim of this review is to present the clinical and phenotypic characteristics of patients with the Amelogenesis Imperfecta-Nefrocalcinosis Syndrome. The material was obtained through an online search of MEDLINE database (PubMed), EBSCO-Host and Scopus (ScienceDirect). The results confirm the low frequency of clinical cases reported with Syndrome Amelogenesis Imperfecta-Nefrocalcinosis. The clinical and phenotypic characteristics were exposed in a clear, simple and precise way. It is recommended to general dentists and pediatric dentists that, when diagnosing an AI, particularly of hypoplastic type, they perform a detailed personal-family medical history and contemplate an interconsultation with the nephrology service that allows to diagnose or monitor the patient's renal status in a preventive style.

Progress in the diagnosis and treatment of hereditary nephrolithiasis and/or nephrocalcinosis in children / 国际儿科学杂志

Hereditary nephrolithiasis/nephrocalcinosis in children is a rare disease, the incidence of which is not clear for the time being. Due to the lack of typical symptoms and signs, missed diagnosis, misdi-agnosis and delayed diagnosis are very common, some patients have already progressed to end-stage renal dis-ease by the time of definite diagnosis. With the rapid development of molecular diagnostic technology, consid-erable progress have been made in this kind of disease. This article summarizes the disease classification and re-cent advances in the diagnosis and treatment of hereditary nephrolithiasis/nephrocalcinosis in children, aiming at improving clinicians' understanding of this kind of disease and providing help for its early diagnosis and treat-ment.

Diagnosis and management of hypercalcemia associated with silicone-induced granuloma

SUMMARY Hypercalcemia associated with silicone-induced granuloma is a rare disease. Diagnosis can be tricky as it is established after ruling out other hypercalcemia-causing entities. In addition, management is customized depending on the patient's wishes and possible solutions. We present a male bodybuilder, in his thirties, with multiple silicone injections in his upper extremities, who developed hypercalcemia and urinary symptoms. Advanced laboratory tests ruled out various causes of hypercalcemia and CT imaging revealed nephrocalcinosis. A biopsy of the upper arm showed granulomatous tissue and inflammation. The patient necessitated two sessions of dialysis and corticosteroids were given to relieve symptoms and reverse laboratory abnormalities. Silicone-induced hypercalcemia should be on high alert because of the increasing trend of body contour enhancements with injections, implants and fillers. Treatment should be optimized depending on the patient's needs and condition.

RESUMO A hipercalcemia associada ao granuloma induzido por silicone é uma doença rara. O diagnóstico pode ser complicado, pois é estabelecido depois de eliminadas outras entidades que causam hipercalcemia. Além disso, o gerenciamento é personalizado, dependendo dos desejos do paciente e das possíveis soluções. Apresentamos um fisiculturista masculino, com trinta e poucos anos, múltiplas injeções de silicone nas extremidades superiores, que desenvolveu hipercalcemia e sintomas urinários. Testes laboratoriais avançados descartaram várias causas de hipercalcemia e a imagem da TC revelou nefrocalcinoses. Uma biópsia da parte superior mostrou tecido granulomatoso e inflamação. O paciente exigiu duas sessões de diálise e foram administrados corticosteroides para aliviar os sintomas e reverter as anormalidades laboratoriais. A hipercalcemia induzida por silicone deve estar em alerta elevado devido à crescente tendência de aprimoramentos do contorno corporal com injeções, implantes e enchimentos. O tratamento deve ser otimizado de acordo com as necessidades e condições do paciente.

Una nueva mutación de la enfermedad de Dent en un niño de 11 años con nefrolitiasis y nefrocalcinosis / A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis

La enfermedad de Dent es una tubulopatía recesiva ligada al cromosoma X caracterizada por proteinuria de bajo peso molecular (bpm), hipercalciuria, nefrocalcinosis o nefrolitiasis, disfunción tubular proximal e insuficiencia renal en la adultez. Las mujeres son portadoras y, en general, padecen una forma leve de la enfermedad. La progresión hacia la insuficiencia renal en estadio terminal se da entre los 30 y los 50 años de edad en el 30-80% de los varones afectados. A falta de un tratamiento dirigido al defecto molecular, en la actualidad, los pacientes con enfermedad de Dent reciben tratamientos complementarios orientados a prevenir la nefrolitiasis y la nefrocalcinosis. El caso que presentamos es el de un niño de 11 años con nefrocalcinosis y nefrolitiasis, en quien se detectó una nueva mutación en el gen CLCN5.

Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.

Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review / Hiperoxalúria primária diagnosticada após transplante renal: relato de dois casos e revisão da literatura

Abstract Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). We present two cases of patients with a history of renal lithiasis who were diagnosed with primary hyperoxaluria in the post-transplant period, manifested by early graft failure, with evidence of calcium oxalate crystals in renal biopsy, hyperoxaluria, hyperoxalemia, and genetic test compatible; they were managed with proper diet, abundant oral liquids, pyridoxine, hydrochlorothiazide and potassium citrate; however, they had slow but progressive deterioration of their grafts function until they reached end-stage chronic renal disease.

Resumo A hiperoxalúria primária (HP) é um distúrbio genético muito raro, caracterizado por deficiência total ou parcial das enzimas relacionadas ao metabolismo do glioxilato, superprodução de oxalato de cálcio que se deposita em vários órgãos (principalmente os rins) resultando em litíase recorrente, nefrocalcinose e doença renal terminal (DRT). Nos pacientes com DRT que recebem transplante renal, a doença apresenta recidiva em 100% dos casos, com perda do enxerto nos primeiros cinco anos após o transplante num elevado percentual de pacientes. Três distúrbios moleculares foram descritos na HP: mutação dos genes da alanina-glioxilato aminotransferase (AGXT), glioxilato redutase/hidroxipiruvato redutase (GRHPR) e 4-OH-2-oxoglutarato aldolase (HOGA1). Apresentamos dois casos de pacientes com histórico de litíase renal diagnosticados com hiperoxalúria primária no período pós-transplante, manifestada na forma de perda precoce do enxerto com evidências de cristais de oxalato de cálcio na biópsia renal, hiperoxalúria, hiperoxalemia e testes genéticos compatíveis. Os pacientes foram tratados com abordagem nutricional, líquidos orais em abundância, piridoxina, hidroclorotiazida e citrato de potássio. Contudo, os pacientes apresentaram deterioração lenta e gradual da função do enxerto e evoluíram para doença renal terminal.

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis induced by compound heterozygous mutation of CLDN16: a case report and literature review / 中华泌尿外科杂志

Objective To investigate the clinical features and disease-causing mutations of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.Methods In February 2016,a 24 year old female patient with left kidney stone and nephrocalcinosis in bilateral kidneys was admitted to our hospital.One month prior to this admission,she had been treated by PCNL to remove the most part of left kidney stone in otherhospital.Mter admission,She was found hypomagnesaemia (serum magnesium 0.65 mmol/ L) and hypercalciuria (24h urine calcium 364.0 mg) but with normal renal function (serum creatinine 101.5μmol/L).And the remained part of left kidney stone was removed by flexible ureteroscope.As she was considered probably with an autosomal recessive FHHNC,an analysis of CLDN16 and CLDN19 gene mutations was performed using her and her parents'peripheral white blood cells.Results Mutation analysis revealed this patient had two heterozygous mutations in the CLDN16.One is an one-base deletion mutation in the 123th codon in exon 2:368delA.The other is a missense mutation in the 139th codon in exon 2:416C →T which resulted in an amino acid change Ala139Val.Her parents respectively had one of each heterozygous mutation.In the six months follow-up,an oral administration with hvdrochlorothiazide,potassium citrate,and calcium magesium supplements significantly reduced her hypomagnesaemia (serum magnesiun 1.0 mmol/L) and hypercalciuria (24-h urine calcium 156.0 mg),and no stone recurrence and aggravation of nephrocalcinosis and renal dysfunction occurred.Conclusions We diagnosed a patient with FHHNC who had a novel compound heterozygous mutation of CLDN16.This rare disease should be suspected if there are three constant clinical features of hypomagnesaemia,hypercalciuria and nephrocalcinosis,and verified with CLDN16 and CLDN19 gene test.Currently the option for treatment of FHHNC is symptomatic treatment until severe deterioration of renal function.The hydrochlorothiazide,potassium citrate,and calcium magesium supplements may have considerable effects on hypomagnesaemia and hypercalciuria.

Utility of optical coherence tomography in a case of bilateral congenital macular coloboma.

Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin‑19 (CLDN‑19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination. Although genetic testing is necessary to diagnose mutational alterations of the CLDN‑19 gene, in our case, it was not necessary to diagnose the FHHNC patient with macular coloboma, since the diagnosis of ocular damage had been already accurately established by the OCT.

Nefrocalcinosis como complicación de hipercalcemia por ingesta excesiva de calcio en el embarazo

Antecedentes: La hipercalcemia durante el embarazo es un hallazgo raro. La exposición prolongada a los altos niveles de calcio puede llevar a calcificaciones en distintos órganos maternos y en el feto puede llevar a abortos espontáneos y mortinatos. Caso clínico: Paciente primípara, con gestación de 20+4 semanas, remitida por falla renal aguda e hipertensión arterial. Ella reportó ingesta excesiva de queso, leche y multivitamínicos. Con calcio de 9,2 mg/dL y relación BUN/Creatinina de 6,8 se diagnostica intoxicación alimentaria y nefrocalcinosis medular por alta ingesta de calcio. Al cuarto día de hospitalización presenta sangrado vaginal y debido a las condiciones de la madre se termina el embarazo. Posteriormente presenta una mejoría clínica significativa y se da de alta. Discusión: La relevancia de este caso es que la presencia de hipercalcemia en el embarazo y su no identificación, aumenta el riesgo de aborto, y de hipocalcemia neonatal, que a su vez puede causar muerte materna. En este cuadro se pueden presentar varias complicaciones, siendo una de las más frecuentes la nefrocalcinosis, identificada en este reporte. Conclusión: La ingesta de calcio excesiva en gestantes puede causar nefrocalcinosis. Es importante la educación para evitar ésta y otras complicaciones.

Background: Hypercalcemia during pregnancy is a strange finding. The long exposure to high calcium levels can take to calcifications in different maternal organs and it can lead to miscarriage and stillborn. Case presentation: A woman with 20+4 weeks' gestation, who was remitted because of an acute renal failure and hypertension. She reported excessive intake of cheese, milk and multivitaminics. With a calcium level of 9.2 mg/dL and BUN/Creatinine of 6.8, diagnosed with food poisoning and medullary nephrocalcinosis as a result of the high calcium intake. At the fourth day at the hospital she presented vaginal bleeding and due to the conditions of the mother the pregnancy was ended. Afterwards she presented a significant clinical improvement and she was discharged from the hospital. Discussion: The relevance of this case is that the presence of hypercalcemia during pregnancy and not identifying it elevates the risk of miscarriage and neonatal hypocalcemia, which can cause maternal death. In this aspect, many complications can develop, being one of the most important the nephrocalcinosis, identified in this report. Conclusion: The excessive calcium intake in pregnant women can cause nephrocalcinosis. It is important to educate them to avoid this and other complications.

Two Cases of Distal Renal Tubular Acidosis accompanied by Sjogren's Syndrome / 대한내과학회지

Renal tubular acidosis (RTA) is a syndrome characterized by hyperchloremic metabolic acidosis and an inability to excrete highly acid urine, in which the impaired acid excretion is disproportional to the reduction in the glomerular filtration rate. Distal renal tubular acidosis (dRTA) is frequently associated with immune-mediated disease, including Sjogren's syndrome. Sjogren's syndrome is a systemic autoimmune disease that mainly affects exocrine glands, such as the lacrimal and salivary glands, resulting in xerophthalmia and xerostomia. Extraglandular manifestations are frequent and may include renal involvement. Recently, we experienced two cases of renal tubular acidosis in patients with Sjogren's syndrome. The first patient had lower extremity weakness and hypokalemia and the second had nephrocalcinosis. We discuss the frequency and pathogenesis of dRTA in Sjogren's syndrome.

The Clinical Features and Prognosis of Nephrocalcinosis in Preterm Neonates: A Single Center Study in Korea

PURPOSE: Nephrocalcinosis (NC) is frequently observed in premature infants. Small-scale studies have suggested that NC adversely affects renal function; however, the etiologic factors are still unclear. This prospective observational study aimed to identify the factors that influence the development of NC, through urine analysis. METHODS: In total, 99 preterm infants (gestational age 0.51]). The follow-up rate was 52% (27/52) and symptoms in none of the infants had progressed to nephrolithiasis. In the infants that were followed up, NC was resolved at a mean age of 7.7 (range: 2-32) months. CONCLUSION: Our results suggest that hyperoxaluria is a significant risk factor for the development of NC.

Nefrocalcinose associada ao uso de esteroide anabolizante / Nephrocalcinosis associated with the use of anabolic steroid

Os esteroides anabolizantes têm sido usados como arma terapêutica em diversas condições clínicas. Entretanto, o uso abusivo e indiscriminado, associado a outros suplementos nutricionais, tem gerado efeitos adversos graves. Relato do caso: Sexo masculino, 21 anos, admitido com náuseas, astenia, hiporexia, cefaleia e hipertensão arterial. Exames no sangue evidenciaram Cr: 3,9 mg/dl U:100 mg/dl e Cálcio total 14 mg/dl. Ultrassonografia e biópsia renal compatíveis com nefrocalcinose. Houve melhora gradativa da função renal e da calcemia após hidratação vigorosa e furosemida. Entretanto, após 1 ano, persistiram depósitos renais de cálcio e relação córticomedular reduzida ao ultrassom e creatinina estável em 1,4 mg/dl. Casos anteriores evidenciaram necrose tubular aguda e nefrite intersticial com poucos depósitos de cálcio no interstício renal. Nesse caso, encontramos nefrocalcinose acentuada associada à nefroesclerose. O objetivo deste estudo é relatar a ocorrência de injúria renal aguda com nefrocalcinose associada ao uso de esteroide anabolizante e oferecer uma revisão do assunto. .

The anabolic steroid have been used as a therapeutic tool in various clinical conditions. However, indiscriminate use associated with other nutritional supplements has generated serious adverse effects. Case report: Male, 21 years old, admitted with nausea, fatigue, appetite loss, headache and hypertension. Blood tests showed Cr: 3.9 mg% U: 100 mg% and Total Calcium 14 mg/dl. Ultrasonography and renal biopsy were consistent with nephrocalcinosis. There has been gradual improvement in renal function and calcium levels after vigorous hydration and furosemide. However, after 1 year, renal calcium deposits persist, corticomedullary ratio reduced in ultrasound and stable creatinine of 1.4 mg/dl. Previous cases showed acute tubular necrosis and interstitial nephritis with little calcium deposits in the renal interstitium. In this case we found severe nephrocalcinosis associated with nephrosclerosis. Our objective is to report the occurrence of acute kidney Injury with nephrocalcinosis associated with use of anabolic steroid and provide a review of the matter. .

Risk Factors and Outcome of Nephrocalcinosis in Very Low Birth Weight Infants / 대한주산의학회잡지

PURPOSE: The aim of this study was to determine the incidence, risk factors, and long-term outcome of nephrocalcinosis in very low birth weight (VLBW) infants. METHODS: A retrospective chart review was performed in VLBW infants between 2006 and 2012 in the neonatal intensive care unit. RESULTS: The incidence of nephrocalcinosis in VLBW infants was 10.2%. By univariate analysis, oligohydramnios and use of antenatal steroids were more frequent in the nephrocalcinosis group. In the nephrocalcinosis group, the gestational age and birth weight were lower and there were more number of female infants. Also, the initial blood pH, the lowest systolic blood pressure, and urine output on the first day of life were lower and bronchopulmonary dysplasia, sepsis, and urinary tract infection were more prevalent in the nephrocalcinosis group. The use of dexamethasone or ibuprofen and the lowest levels of phosphorus, protein and albumin were significantly lower in the nephrocalcinosis group. By binary logistic regression analysis, the use of antenatal steroids, female sex, 5-minute Apgar score, duration of oxygen therapy and total parenteral nutrition, and the lowest albumin level were found to be significant risk factors for nephrocalcinosis. Overall, the resolution rate was 64.1% and 88.6% within 12 months and 18 months, respectively. CONCLUSION: The incidence of nephrocalcinosis in VLBW infants showed increasing trend. The risk factors of nephrocalcinosis were parameters for sick VLBW infants. Although the prognosis of nephrocalcinosis was relatively good, we should pay close attention to the development of complication.

Bone disease in primary hyperparathyroidism / Doença óssea no hiperparatiroidismo primário

Bone disease in severe primary hyperparathyroidism (PHPT) is described classically as osteitis fibrosa cystica (OFC). Bone pain, skeletal deformities and pathological fractures are features of OFC. Bone mineral density is usually extremely low in OFC, but it is reversible after surgical cure. The signs and symptoms of severe bone disease include bone pain, pathologic fractures, proximal muscle weakness with hyperreflexia. Bone involvement is typically characterized as salt-and-pepper appearance in the skull, bone erosions and bone resorption of the phalanges, brown tumors and cysts. In the radiography, diffuse demineralization is observed, along with pathological fractures, particularly in the long bones of the extremities. In severe, symptomatic PHPT, marked elevation of the serum calcium and PTH concentrations are seen and renal involvement is manifested by nephrolithiasis and nephrocalcinosis. A new technology, recently approved for clinical use in the United States and Europe, is likely to become more widely available because it is an adaptation of the lumbar spine DXA image. Trabecular bone score (TBS) is a gray-level textural analysis that provides an indirect index of trabecular microarchitecture. Newer technologies, such as high-resolution peripheral quantitative computed tomography (HR-pQCT), have provided further understanding of the microstructural skeletal features in PHPT.

A doença óssea no hiperparatiroidismo primário grave é representada pela osteíte fibrosa cística (OFC). Dor óssea, deformidades esqueléticas e fraturas patológicas são achados comuns na OFC. A densidade mineral óssea está, usualmente, extremamente diminuída na OFC, mas é reversível após a cura cirúrgica. Os sinais e sintomas da doença óssea grave incluem dor óssea, fraturas patológicas e fraqueza muscular proximal com hiper-reflexia. O comprometimento ósseo é tipicamente caracterizado pela aparência em “sal-e-pimenta” nos ossos do crânio, erosões ósseas e reabsorção das falanges, tumores marrons e cistos. Na radiografia, observam-se desmineralização difusa e fraturas patológicas especialmente nos ossos longos das extremidades. No hiperparatiroidismo primário (HPTP) sintomático grave, as concentrações séricas de cálcio e PTH estão usualmente bem elevadas e o comprometimento renal se caracteriza pela presença de urolitíase e nefrocalcinose. Uma nova tecnologia, recentemente aprovada para uso clínico nos Estados Unidos e na Europa, torna-se provável se difundir rapidamente, pois utiliza as imagens geradas pela densitometria DXA. O escore trabecular ósseo (TBS), obtido por meio da análise do nível da textura cinza das imagens dos corpos vertebrais, fornece informações indiretas sobre a microarquitetura trabecular. Novos métodos, como a tomografia de alta resolução quantitativa periférica computadorizada (HRpqCT), têm proporcionado conhecimentos adicionais sobre os achados da microarquitetura esquelética no HPTP.

Tuberculose associada a nefrocalcinose em um lactente / Tuberculosis associated with nephrocalcinosis in an infant

Objetivos: Relatar um caso clínico de tuberculose de apresentação não usual.Descrição do caso: Uma lactente de oito meses, sem infecção pelo vírus de imunodeficiência humana (HIV), filha de mãe seropositiva para HIV e com tuberculose pulmonar, foi internada por febre com 15 dias de evolução, sem outra sintomatologia. A radiografia de tórax revelou múltiplos focos de hipotransparência bilateralmente e a prova de tuberculina 8 mm. A doente não havia recebido a vacina BCG. Realizou broncofibroscopia que evidenciou compressão extrínseca da árvore traqueobrônquica, causada por múltiplas adenopatias, confirmadas por ressonância magnética nuclear do mediastino. Na ecografia abdominal foram encontrados aspectos sugestivos de nefrocalcinose. Os estudos do metabolismo cálcio-fósforo e da função renal não revelaram alterações. Iniciou terapêutica antibacilar tripla e corticoterapia. Foi isolado Mycobacterium tuberculosis no lavado bronco-alveolar. Verificou-se boa evolução clínica, tendo alta com 27 dias de terapêutica antibacilar.Conclusões: Este caso clínico destaca-se pela forma incomum de apresentação da tuberculose, com a presença de nefrocalcinose. As perturbações do metabolismo do cálcio associadas à tuberculose são raras, mas têm implicação no seguimento e no prognóstico.

Aims: To report a case of tuberculosis with unusual presentation.Case description: An eight months old infant without infection by the human immunodeficiency virus (HIV), born of an HIV-positive mother with pulmonary tuberculosis, was hospitalized for fever lasting 15 days, with no other symptoms. Chest radiography revealed multiple bilateral nodular opacities and the tuberculin test was 8 mm. The patient had not received BCG vaccination. Bronchoscopy showed extrinsic compression of the tracheobronchial tree, caused by multiple adenopathies, confirmed by nuclear magnetic resonance imaging of the mediastinum. Abdominal ultrasound was suggestive of nephrocalcinosis. Phospho-calcium metabolism and renal function studies showed no alterations. Triple antituberculous therapy and corticosteroid were started. Mycobacterium tuberculosis was isolated in bronchoalveolar lavage. There was good clinical outcome and the patient was discharged with 27 days of antituberculosis therapy.Conclusions : This case stands out for its unusual presentation , with the presence of nephrocalcinosis. Disturbances of calcium metabolism associated with tuberculosis are rare, but have implications for the follow-up and prognosis.