Uso de ibuprofeno en el tratamiento de pacientes pediátricos con poliuria y disnatremia. Reporte de una serie de casos / Ibuprofen use for the treatment of pediatric patients with polyuria and dysnatremia. A case series report

Los niños con lesiones selares y/o supraselares pueden presentar diabetes insípida central con posterior secreción inadecuada de hormona antidiurética. Nosotros observamos, en algunos casos, aumento de la incidencia de poliuria, natriuresis e hiponatremia, tríada diagnóstica del síndrome cerebral perdedor de sal. Aquí comunicamos la evolución de 7 pacientes con antecedentes de daño agudo del sistema nervioso central y diabetes insípida central seguida por síndrome cerebral perdedor de sal. Como tratamiento aportamos secuencialmente fluidos salinos parenterales, cloruro de sodio oral, desmopresina, mineralocorticoides e incluso tiazidas. Ante la persistencia de poliuria con hiponatremia, agregamos ibuprofeno. Como resultado de este esquema terapéutico secuencial, este grupo redujo significativamente los valores de diuresis diaria de 10 ml/kg/h a 2 ml/kg/h en un tiempo promedio de 5 días, normalizando también las natremias (de 161 mEq/L a 143 mEq/L) en un tiempo promedio de 9 días. En ningún caso observamos efectos adversos asociados al tratamiento.

Children with sellar and/or suprasellar lesions may develop central diabetes insipidus with subsequent inappropriate antidiuretic hormone secretion. An increased incidence of polyuria, natriuresis, and hyponatremia has been reported in some cases, which make up the diagnostic triad of cerebral salt wasting syndrome. Here we report the clinical course of 7 patients with a history of acute central nervous system injury and central diabetes insipidus followed by cerebral salt wasting syndrome. Treatment included the sequential use of parenteral saline solution, oral sodium chloride, desmopressin, mineralocorticoids, and even thiazides. Due to persistent polyuria and hyponatremia, ibuprofen was added. As a result of this sequential therapeutic regimen, daily urine output reduced significantly from 10 mL/ kg/h to 2 mL/kg/h over an average period of 5 days, together with a normalization of natremia (from 161 mEq/L to 143 mEq/L) over an average period of 9 days. No treatment-related adverse effects were observed in any case.

Idiopathic partial central diabetes insipidus

ABSTRACT Diabetes insipidus is a rare disorder characterized by the inability to concentrate urine, which results in hypotonic urine and increased urinary volume. It may occur because of antidiuretic hormone deficiency or resistance to its action in the renal tubules. When there is a deficiency in the synthesis of antidiuretic hormones, diabetes insipidus is called central; when there is resistance to its action in the renal tubules, it is said to be nephrogenic. We report a case of idiopathic partial central diabetes insipidus and highlight the management and treatment of the disease.

Síndrome poliuria - polidipsia de causa autoinmune en el posparto de una mujer de 27 años

La hipofisitis autoinmune es un cuadro caracterizado por la infiltración linfocítica de la hipófisis que produce deficiencia de una o más hormonas, tanto de la adenohipófisis como de la neurohipófisis. Para el diagnóstico, es necesario un alto índice de sospecha, más aún considerando la relación temporal con el embarazoo el parto. Las características clínicas e imagenológicas sugieren el diagnóstico. A pesar que el diagnóstico definitivo es por biopsia, esta no se suele realizar por los potenciales efectos adversos del procedimiento. Presentamos un caso que describe la forma de manifestación de la enfermedad y las características imagenológicas típicas en la resonancia magnética nuclear.

Autoimmune hypophysitis is a condition characterized by lymphocytic infiltration of the pituitary resulting in deficiency of one or more hormones of both the adenohypophysis and the neurohypophysis. For diagnosis, a high index of suspicion is necessary, even more so considering the temporal relationship with pregnancy or childbirth. Clinical and imaging features are suggestive of the diagnosis. Although the definitive diagnosis is by biopsy, this is not usually performed because of the potential adverse effects of the procedure. We present a case describing the form of manifestation of the disease and the typical imaging features on magnetic resonance imaging.

The clinical features of nocturnal enuresis in adult men and women / 中华泌尿外科杂志

Objective:To discover the clinical features of nocturnal enuresis (NE) in adults and to detect factors that correlated with the symptom severity.Methods:This cross-sectional study recruited NE subjects from September 2017 through December 2020. All patients had experienced enuresis at least once per week and with a symptom duration of 3 months or longer. Followed by documentation of history and medical records, three-day bladder diary was adopted to assess their voiding pattern, and urodynamic parameters were obtained to evaluate lower urinary tract function.Results:A total of 106 NE patients (43 male and 63 female) were identified. There is no statistical difference regarding the average age (men: 57.8±15.6 vs. women: 56.1±14.0, P>0.05) and BMI (men: 23.9±3.4 vs. women: 23.3±4.3, P>0.05) between men and women. Comorbidities are extremely common in NE patients (n=85, 80.2%), with the incidence rate higher in men compared to women [88.4% (38/43)vs. 74.6% (47/63), P<0.05]. Hypertension (n=58, 54.7%), hyperlipemia (n=41, 38.7%), diabetes mellitus (n=38, 35.8%), coronary heart disease (n=22, 20.8%) were the most frequently reported conditions. On bladder diaries, subjects were frequently manifested nocturnal polyuria (NP, 47/106, 44.3%), reduced nocturnal bladder capacity (NBC, 74/106, 69.8%), or combination of both(33/106, 31.3%). Urodynamic studies suggested that the incidence of reduce bladder compliance, detrusor overactivity (DO), stress incontinence, bladder outlet obstruction(BOO), detrusor underactivity(DU)and detrusor hyperreflexia with impaired contractility(DHIC)was 27.4%(29/106), 39.6%(42/106), 17.9%(19/106), 9.4%(10/106), 25.5%(27/106)and 15.1%(16/106), respectively. Women were more likely to suffer from stress urinary incontinence [2.3%(1/43) men vs. 28.6% (18/63) women, P<0.01], while men were prone to have bladder outlet obstruction [ 23.3%(10/43) men vs. 0 women, P<0.01]. Correlation analysis demonstrated that obesity( r=0.63, P<0.01), systemic comorbidities( r=0.40, P<0.01), presence of NP( r=0.50, P<0.01) and NP+ NBC( r=0.47, P<0.01), post-void residual( r=0.53, P<0.01), reduced compliance( r=0.21, P=0.04), DU( r=0.28, P<0.01), stress incontinence( r=0.42, P<0.01)and DHIC ( r=0.35, P<0.01)are positively correlated with NE severity. Whereas, reduced Q max( r=-0.35, P<0.01), low capacity( r=0.21, P=0.03), and reduced bladder sensation( r=-0.21, P=0.03) correlate negatively with NE severity. Conclusions:The presence of NE is not only a sign of bladder dysfunction, but also an implication of obesity, systematic chronic diseases, urine production malfunctioning. Therefore, a thorough history regarding the lower urinary tract function and systemic comorbidities should be taken carefully, so that, an integrated and personalized treatment can be carried out.

Awareness of Diabetes Mellitus & Its Complications in Southern Part of Assam

Introduction: Diabetes Mellitus prevalence is high in Indiaand is increasing every year, with strain on the economy formanagement of this disease and its complications. As the dataon the level of awareness and knowledge about diabetes isscarce, this study was done.Material and methods: It is a cross-sectional study conductedon 182 diabetic patients attending a tertiary care teachinghospital of north eastern India, over a period of two months,using questionnaire. The clinical and non-clinical data weretabulated and quantitative data expressed as percentage.Results: Among 182 diabetics, 43.96% patients knew aboutthe cause of DM, 25.27% knew polyuria as its symptom, 45%patients had an idea of blood sugar testing, 19.23% knewabout its management and 27.47% answered loss of visionas its complications. Majority patients, 58.79%, weren’tcounselled about the disease.Conclusions: Knowledge and awareness about DiabetesMellitus was poor in present study population. Hence it isimportant to extend the diabetic health programs with propercounselling in mass campaigns to improve their knowledgeand thus prevent complications.

Renal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus

Background: Nephrogenic diabetes insipidus (DI) can be primary or secondary to variouscauses. Case Characteristics: One child with Fanconi syndrome with proximal renaltubular acidosis (RTA) due to nephropathic cystinosis, and other with Distal RTA withhearing loss. Observation: Both cases showed features of nephrogenic DI, which resolvedafter treating the primary pathology. Message: Renal Tubular acidosis may causenephrogenic DI.

Congenital B-cell Acute Lymphoblastic Leukemia with Congenital Rubella Infection

Background: Congenital B-cell Acute lymphoblastic leukemia (ALL) is a rare malignancy.Case Characteristics: A newborn infant presented with purpuric spots and ecchymoticpatches, blueberry muffin rash, depressed neonatal reflexes, respiratory distress andhepatosplenomegaly. Peripheral smear revealed atypical blast cells. Serum ELISA waspositive for Rubella IgM and IgG antibodies. Flow cytometry suggested congenital B-cellALL. Outcome: The baby died after 3 days due to suspected intracranial hemorrhage.Message: Congenital leukemia may be rarely associated with congenital rubella infection.

Enuresis secundaria como presentación de feocromocitoma en una niña de 13 años / Pheochromocytoma presenting with secondary enuresis in a 13-year-old girl

El feocromocitoma es un tumor raro, infrecuente en la edad pediátrica. Los síntomas clásicos derivados del exceso de catecolaminas son cefalea, sudoración y palpitaciones, aunque los niños pueden tener una clínica más atípica. La hipertensión arterial suele ser un signo constante en la mayoría de los pacientes. Existen pocos casos descritos de poliuria como forma de presentación de feocromocitoma. Se presenta el caso de una niña de 13 años remitida a consulta de Nefrología Pediátrica por enuresis secundaria de un año de evolución. La tensión arterial clínica tomada durante la exploración era superior al percentil 99 para su edad y talla, motivo por el que se decidió el ingreso para su estudio y tratamiento.

Pheochromocytoma is a rare tumor which is infrequent in children. Although the clinical presentation in children can be atypical, the classic symptoms are headache, sweating and tachycardia. Hypertension is often a constant sign in most patients. There are few cases in literature reporting pheochromocytoma presented with polyuria. We present a 13-year-old girl who came to the Pediatric Nephrologist due to a year of evolution of secondary enuresis. When her blood pressure was taken, she was above the 99th percentile that corresponds to her age and her height that is why she was admitted for treatment and diagnostic study.

Central Diabetes Insipidus Linked to Rathke's Cleft Cyst, Polyuria in a 17-year-old Girl

A 17-year-old girl presented with polyuria (7 L/day) and polydipsia for one year. Initial urine osmolality was 113mOsm/kg H₂O. Following 6 h of fluid restriction, serum plasma osmolality reached 300mOsm/kg H₂O, whereas urine osmolality was 108mOsm/kg H₂O. Urine osmolality was increased by 427% from 108 to 557mOsm/kg after vasopressin challenge. The patient was diagnosed with central diabetes insipidus, possibly derived from the atypical occupation of a Rathke's cleft cyst at the pituitary stalk following magnetic resonance imaging with enhancement. She was discharged with desmopressin nasal spray (10 µg); urine output was maintained at 2-3 L/day, and urine osmolality was >300 mOsm/kg. Additional pituitary image studies and evaluation of hypopituitarism should be included in the differential diagnosis of patients with central diabetes insipidus.

Phenotype of Dent Disease in a Cohort of Indian Children.

Objective: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years. Design: Case series. Setting: Pediatric Nephrology Clinic at a referral center in Northern India. Methods: The medical records of patients with Dent disease diagnosed and followed up at this hospital from June 2005 to April 2015 were reviewed. The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes. Results: The phenotype in 18 patients diagnosed with Dent disease during this period was characterized by early age at onset (median 1.8 y), and polyuria, polydipsia, salt craving, hypophosphatemic rickets and night blindness. Rickets was associated with severe deformities, fractures or loss of ambulation in six patients. Nephrocalcinosis was present in three patients, while none had nephrolithiasis. Generalized aminoaciduria was seen in 13 patients, two had glucosuria alone, and one had features of Fanconi syndrome. Over a median follow up of 2.7 years, one patient developed renal failure. Genetic testing (n=15) revealed 5 missense mutations and 3 nonsense mutations in CLCN5 in 13 patients. Five of these variations (p.Met504Lys, p.Trp58Cys, p.Leu729X, p.Glu527Gln and p.Gly57Arg) have not been reported outside the Indian subcontinent. Conclusion: Our findings suggest a severe phenotype in a cohort of Indian patients with Dent disease.

Clinical and Laboratory Characteristics of Childhood Diabetes Mellitus: A Single-Center Study from 2000 to 2013 / 전남의대학술지

We examined the clinical and laboratory characteristics of children newly diagnosed with diabetes mellitus (DM) in a single-center study. We retrospectively reviewed the data of 155 children with DM between January 2000 and December 2013. Of 155 diabetic children, 87 (56.1%) were diagnosed with type 1 DM (T1DM) and 68 (43.9%) with type 2 DM (T2DM). Mean ages at diagnosis were 8.95+/-3.89 years (T1DM) and 13.76+/-2.23 years (T2DM), respectively (p3.59 ng/mL for 36 months. However, serum C-peptide levels in T1DM were slightly increased up to 6 months after onset and gradually decreased to 0.32 ng/mL for 36 months. The prevalence of children with DM has increased over the last 14 years, and the proportion of T2DM patients has rapidly increased since 2009. Because childhood DM is associated with several metabolic and cardiovascular complications, children should be screened for early detection of DM, especially asymptomatic T2DM in children and adolescents.

Two Cases of Graves' Disease Presented with Atypical Symptoms

We describe here two Graves' patients who have presented with atypical symptoms. Interestingly, both of them had symptoms related to imbalance of body fluid homeostasis. Chief complaint of a 35-year-old woman (case 1) was the ipsilateral edema of upper body. A 33-year-old man (case 2) who had severe polyuria has referred from urology department with impression of diabetes insipidus. Both of them denied any typical symptoms of Graves' disease at presentation. These rare extrathyroid manifestations of Graves' disease were completely subsided after antithyroid drug treatment. We introduce their clinical courses and possible pathophysiological mechanisms of the atypical symptoms of Graves' disease.

Two Cases of Graves' Disease Presented with Atypical Symptoms

We describe here two Graves' patients who have presented with atypical symptoms. Interestingly, both of them had symptoms related to imbalance of body fluid homeostasis. Chief complaint of a 35-year-old woman (case 1) was the ipsilateral edema of upper body. A 33-year-old man (case 2) who had severe polyuria has referred from urology department with impression of diabetes insipidus. Both of them denied any typical symptoms of Graves' disease at presentation. These rare extrathyroid manifestations of Graves' disease were completely subsided after antithyroid drug treatment. We introduce their clinical courses and possible pathophysiological mechanisms of the atypical symptoms of Graves' disease.

Clinical and Laboratory Characteristics of Childhood Diabetes Mellitus: A Single-Center Study from 2000 to 2013 / 전남의대학술지

We examined the clinical and laboratory characteristics of children newly diagnosed with diabetes mellitus (DM) in a single-center study. We retrospectively reviewed the data of 155 children with DM between January 2000 and December 2013. Of 155 diabetic children, 87 (56.1%) were diagnosed with type 1 DM (T1DM) and 68 (43.9%) with type 2 DM (T2DM). Mean ages at diagnosis were 8.95+/-3.89 years (T1DM) and 13.76+/-2.23 years (T2DM), respectively (p<0.001). There were significant differences in HbA1c, C-peptide, and glutamic acid decarboxylase antibody levels between the T1DM and T2DM groups. Annual numbers of children with DM have increased, and since 2011 the number of children with T2DM has surpassed the number with T1DM. The most common clinical symptom in T1DM was polyuria, and 26.4% of children with T1DM presented initially with diabetic ketoacidosis. In contrast, 60.3% of T2DM children showed glucosuria in a school urine screening, and only 19.1% presented with polydipsia. The rate of positivity for at least more than one islet autoantibody was 77.1% in T1DM and 26.3% in T2DM. Serum C-peptide levels in T2DM were increased up to 12 months after onset and remained >3.59 ng/mL for 36 months. However, serum C-peptide levels in T1DM were slightly increased up to 6 months after onset and gradually decreased to 0.32 ng/mL for 36 months. The prevalence of children with DM has increased over the last 14 years, and the proportion of T2DM patients has rapidly increased since 2009. Because childhood DM is associated with several metabolic and cardiovascular complications, children should be screened for early detection of DM, especially asymptomatic T2DM in children and adolescents.

Deficiency of antidiuretic hormone: a rare cause of massive polyuria after kidney transplantation / 소아과

A 15-year-old boy, who was diagnosed with Alport syndrome and end-stage renal disease, received a renal transplant from a living-related donor. On postoperative day 1, his daily urine output was 10,000 mL despite normal graft function. His laboratory findings including urine, serum osmolality, and antidiuretic hormone levels showed signs similar to central diabetes insipidus, so he was administered desmopressin acetate nasal spray. After administering the desmopressin, urine specific gravity and osmolality increased abruptly, and daily urine output declined to the normal range. The desmopressin acetate was tapered gradually and discontinued 3 months later. Graft function was good, and urine output was maintained within the normal range without desmopressin 20 months after the transplantation. We present a case of a massive polyuria due to transient deficiency of antidiuretic hormone with the necessity of desmopressin therapy immediately after kidney transplantation in a pediatric patient.

The Prevalence of Nocturia and Nocturnal Polyuria: Can New Cutoff Values Be Suggested According to Age and Sex? / 대한배뇨장애요실금학회지

PURPOSE: The aims of this study were to assess the prevalence of nocturia and nocturnal polyuria (NP) and to define new cutoff values according to age and sex for both conditions. METHODS: Data from a population-based prevalence survey conducted among a random sample of 2,128 adults were analyzed in this study. Participants were requested to fill out a questionnaire including the International Continence Society (ICS) definitions of lower urinary tract symptoms and the International Consultation on Incontinence Questionnaire - Short Form. Additionally, a 1-day bladder diary was given to each individual. The participants were divided into 5 age groups. The prevalence of nocturia was calculated based on definitions of nocturia as ≥1 voiding episodes, ≥2 episodes, and ≥3 episodes. NP was evaluated according to the ICS definition. The mean±standard errors and 95th percentile values were calculated in each group as new cutoff values for NP. RESULTS: The prevalence of nocturia was estimated as 28.4%, 17.6%, and 8.9% for ≥1, ≥2, and ≥3 voiding episodes each night, respectively. When nocturia was defined as 2 or more voiding episodes at night, the prevalence decreased significantly. The mean NP index was 29.4%±15.0% in men and 23.1%±11.8% in women. For the age groups of <50 years, 50–59 years, and ≥60 years, the new cutoff values for the diagnosis of NP were calculated as 48%, 69%, and 59% for men and 41%, 50%, and 42% for women, respectively. CONCLUSIONS: We found that the definition of nocturia was still controversial and that waking up once for voiding might be within the normal spectrum of behavior. The definition of NP should be modified, and new cutoff values should be defined using the data presented in our study and in other forthcoming studies.

SECTION A: Pathophysiology of Type 2 Diabetes Mellitus in Children. SECTION B: Clinical scenario of Type 2 Diabetes mellitus in children. SECTION C: Epidemiology and Prevention of Type 2 Diabetes mellitus in children.

SECTION A: Pathophysiology of Type 2 Diabetes mellitus in children Dr. Jyoti Kini While Type 2 diabetes mellitus (T2DM) continues to be a disease of the elderly and the middle aged, currently there has been an upsurge in the incidence of T2DM in the adolescents and the young. Family history, maternal gestational diabetes, low birth weight have contributory role to play in the pathophysiology of T2DM. The pathophysiology underlying the development of alterations in glucose metabolism ranging from abnormal fasting glucose (AFG) to impaired glucose intolerance (IGT) is multifactorial. The early onset of diabetes in childhood or adolescence heralds a long disease interval with resultant escalation of the probability of development of co-morbidities and the entire range of macro- and microvascular complications. SECTION B: Clinical scenario of Type 2 Diabetes mellitus in children Dr. Mallikarjungowda S Patil Type 2 diabetes mellitus (T2DM) is a heterogeneous disorder, characterized by peripheral insulin resistance and failure of beta cells to keep up with increasing insulin demand. T2DM children are usually obese, may present with mild symptoms of polyuria and polydypsia. A systemic approach for treatment of T2DM should be implemented according to the natural course of the disease, including adding insulin when oral hypoglycemic agents failure occurs. Life style modification is an essential part of management. When lifestyle interventions fail to normalize blood glucose, oral hypoglycemic agents are introduced for management of persistent hyperglycemia. SECTION C: Epidemiology and Prevention of Type 2 Diabetes mellitus in children Dr. Savindika Nawarathna , Dr. Animesh Jain Type 2 diabetes mellitus was considered rare amongst children, but recently the incidence has increased worldwide with almost half of the newly diagnosed cases being children and adolescents. Type 2 diabetes mellitus (T2DM) is primarily characterized by insulin resistance detected at the level of skeletal muscle, liver, and adipose tissues with a failure of β-cell compensation and a relative insulin deficiency. A variety of risk factors like race, obesity, insulin resistance, family history, psychococial factors, birth weight, exposure to maternal DM and breastfeeding can influence the development of T2DM. Type 2 DM screening in the paediatric population should be clinically focused and take into account not only those risk factors identified in the American Diabetes Association guidelines, but also the clinical context, pubertal status, and the results of simple screening measures such as fasting glucose and triglycerides. More outcome-based research is required before general screening, to identify children and adolescents with pre-diabetes or insulin resistance can be recommended. The pathophysiology underlying the development of alterations in glucose metabolism ranging from abnormal fasting glucose (AFG) to impaired glucose intolerance (IGT) is multifactorial. The early onset of diabetes in childhood or adolescence heralds a long disease interval with resultant escalation of the probability of development of co-morbidities and the entire range of macro- and microvascular complications.

Síndrome pierde sal en el postoperatorio de cirugía de fosa posterior: reporte de caso / Cerebral salt wasting syndrome in the posterior fossa surgery post-operative period: Case report

Hyponatremia is the most common electrolyte disorder following intracranial surgery. Its aetiology is multifactorial. We present a case of a patient taken to microvascular decompression (Janetta surgery) for the treatment of trigeminal neuralgia who developed a symptomatic magnification of basal hyponatremia in the immediate post-operative period. Cerebral salt wasting syndrome was diagnosed. The management of this condition poses a challenge for physicians involved in postoperative neurosurgical care.

La hiponatremia es el trastorno electrolítico más frecuente después de la cirugía intracraneal. Su etiología es multifactorial. A continuación presentamos un caso de un paciente sometido a una descompresión microvascular (cirugía de Janetta) como tratamiento de la neuralgia del trigémino que en el postoperatorio inmediato desarrolló una magnificación sintomática de su hiponatremia basal. Se diagnosticó un síndrome pierde sal cuyo manejo supone un reto para los médicos implicados en los cuidados neuroquirúrgicos postoperatorios.

Cerebral salt-wasting syndrome after hematopoietic stem cell transplantation in adolescents: 3 case reports

Cerebral salt-wasting syndrome (CSWS) is a rare disease characterized by a extracellular volume depletion and hyponatremia induced by marked natriuresis. It is mainly reported in patients who experience a central nervous system insult, such as cerebral hemorrhage or encephalitis. The syndrome of inappropriate antidiuretic hormone secretion is a main cause of severe hyponatremia after hematopoietic stem cell transplantation, whereas CSWS is rarely reported. We report 3 patients with childhood acute leukemia who developed CSWS with central nervous system complication after hematopoietic stem cell transplantation. The diagnosis of CSW was made on the basis of severe hyponatremia accompanied by increased urine output with clinical signs of dehydration. All patients showed elevated natriuretic peptide and normal antidiuretic hormone. Aggressive water and sodium replacement treatment was instituted in all 3 patients and 2 of them were effectively recovered, the other one was required to add fludrocortisone administration.

Diabetes insípida nefrogénica / Nephrogenic diabetes insipidus

La hormona antidiurética arginina vasopresina (AVP) es liberada de la hipófisis, y regula la reabsorción de agua en las células principales del túbulo colector renal. La unión de la AVP al receptor tipo 2 de la AVP en la membrana basolateral induce la translocación de los canales acuosos de la acuaporina-2 hacia la membrana apical de las células principales de los túbulos colectores, induciendo la permeabilidad al agua de la membrana. Lo anterior da como resultado la reabsorción de agua en el túbulo colector de la nefrona, bajo la influencia de un gradiente osmótico. La diabetes insípida nefrogénica es causada por la resistencia parcial o total al efecto de la AVP. La diabetes insípida nefrogénica congénita es una alteración asociada con mutaciones en los genes AVPR2 o AQP2, ocasionando la incapacidad del paciente para concentrar la orina. La diabetes insípida nefrogénica adquirida o secundaria puede ser causada por desbalances electrolíticos (hipercalcemia, hipokalemia), enfermedades renales o extrarrenales y fármacos (toxicidad por litio). En este artículo se revisan las causas, manifestaciones clínicas, diagnóstico y tratamiento de los pacientes con diabetes insípida nefrogénica. También, con base en la comprensión de los mecanismos íntimos de la alteración, se exploran nuevas estrategias terapéuticas.

The anti-diuretic hormone arginine-vasopressin (AVP) is released from the pituitary and regulates water reabsorption in the principal cells of the kidney collecting duct. Binding of AVP to the arginine-vasopressin receptor type-2 in the basolateral membrane leads to translocation of aquaporin-2 water channels to the apical membrane of the principal cells of the collecting duct, inducing water permeability of the membrane. This results in water reabsorption in the collecting duct of the nephron following an osmotic gradient. Nephrogenic diabetes insipidus is caused by partial or complete renal resistance to the effects of AVP. Congenital nephrogenic diabetes insipidus is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their urine. Acquired nephrogenic diabetes insipidus can be caused by electrolyte imbalances (e.g., hypercalcemia, hypokalemia), renal/extra-renal diseases and drugs (e.g., lithium toxicity). This article reviews the causes, clinical manifestations, diagnosis and treatment of patients with nephrogenic diabetes insipidus. Based on more in-depth mechanistic understanding, new therapeutic strategies are current being explored.