Intradialytic hypotension during dialysis adversely affects a patient's prognosis and increases mortality. We report a case in which intradialytic hypotension that persisted after the administration of midodrine was relieved after the use of fludrocortisone. Administration of 0.2 mg of fludrocortisone occurred 30 minutes before dialysis. We compared 45 sessions of dialysis without fludrocortisone administration and 45 sessions of dialysis with fludrocortisone administration in one patient. The number of times in which systolic blood pressure became lower than 80 mmHg and the number of early terminations of dialysis due to a decrease in systolic blood pressure were higher in the sessions without fludrocortisone administration than in the sessions with fludrocortisone administration (P < 0.05). Fludrocortisone may be helpful for the treatment of intradialytic hypotension that does not respond to midodrine administration.
Blood Pressure ; Dialysis ; Fludrocortisone* ; Humans ; Hypotension* ; Midodrine ; Mortality ; Prognosis ; Renal Dialysis

BACKGROUND: Primary adrenal insufficiency (PAI) is a rare, potentially life-threatening condition. There are few Korean studies on PAI, and most have had small sample sizes. We aimed to examine the etiology, clinical characteristics, treatment, and mortality of PAI in Korean patients. METHODS: A nationwide, multicenter, registry-based survey was conducted to identify adults diagnosed with or treated for PAI at 30 secondary or tertiary care institutions in Korea between 2000 and 2014. RESULTS: A total of 269 patients with PAI were identified. The prevalence of PAI was 4.17 per million. The estimated incidence was 0.45 per million per year. The mean age at diagnosis was 49.0 years, and PAI was more prevalent in men. Adrenal tuberculosis was the most common cause of PAI in patients diagnosed before 2000; for those diagnosed thereafter, adrenal metastasis and tuberculosis were comparable leading causes. The etiology of PAI was not identified in 34.9% of cases. Of the patients receiving glucocorticoid replacement therapy, prednisolone was more frequently administered than hydrocortisone (69.4% vs. 26.5%, respectively), and only 27.1% of all patients received fludrocortisone. We observed an increased prevalence of metabolic disease and osteoporosis during the follow-up period (median, 60.2 months). The observed overall mortality and disease-specific mortality rates were 11.9% and 3.1%, respectively. CONCLUSION: The prevalence of PAI is significantly lower in Koreans than in reports from Western countries. The high frequency undetermined etiology in patients with PAI suggests the need to reveal accurate etiology of PAI in Korea.
Addison Disease* ; Adult ; Autoimmune Diseases ; Diagnosis ; Fludrocortisone ; Follow-Up Studies ; Glucocorticoids ; Humans ; Hydrocortisone ; Incidence ; Korea* ; Male ; Metabolic Diseases ; Mortality ; Neoplasm Metastasis ; Osteoporosis ; Prednisolone ; Prevalence ; Sample Size ; Tertiary Healthcare ; Tuberculosis

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of 17α-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.
Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Antley-Bixler Syndrome Phenotype* ; Coccyx ; Congenital Abnormalities ; Craniosynostoses ; Cryptorchidism ; Disorders of Sex Development ; Female ; Fludrocortisone ; Hand ; Humans ; Hydrocortisone ; Infant, Newborn ; Inheritance Patterns ; Kyphosis ; Male ; Mass Screening ; Molecular Biology ; Parturition ; Phenotype ; Population Characteristics ; Spine ; Synostosis ; Tracheostomy

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.
Central Nervous System ; Cerebral Hemorrhage ; Dehydration ; Diagnosis ; Encephalitis ; Fludrocortisone ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Hyponatremia ; Leukemia ; Natriuresis ; Polyuria ; Rare Diseases ; Sodium ; Water

Orthostatic hypotension (OH) occurs when mechanisms for the regulation of orthostatic BP control fails. Such regulation depends on the baroreflexes, normal blood volume, and defenses against excessive venous pooling. OH is common in the elderly and is associated with an increase in mortality rate. There are many causes of OH. Aging coupled with diseases such as diabetes and Parkinson's disease results in a prevalence of 10-30% in the elderly. These conditions cause baroreflex failure with resulting combination of OH, supine hypertension, and loss of diurnal variation of BP. The treatment of OH is imperfect since it is impossible to normalize standing BP without generating excessive supine hypertension. The practical goal is to improve standing BP so as to minimize symptoms and to improve standing time in order to be able to undertake orthostatic activities of daily living, without excessive supine hypertension. It is possible to achieve these goals with a combination of fludrocortisone, a pressor agent (midodrine or droxidopa), supplemented with procedures to improve orthostatic defenses during periods of increased orthostatic stress. Such procedures include water bolus treatment and physical countermaneuvers. We provide a pragmatic guide on patient education and the patient-orientated approach to the moment to moment management of OH.
Activities of Daily Living ; Aged ; Aging ; Baroreflex ; Blood Volume ; Fludrocortisone ; Humans ; Hypertension ; Hypotension, Orthostatic* ; Mortality ; Parkinson Disease ; Patient Education as Topic ; Prevalence ; Water

Hyperkalemia is often detected in young infants, particularly in association with acute pyelonephritis or a urinary tract anomaly. Cases of hyperkalemia in this population may also be due to transient pseudohypoaldosteronism, or immaturity of renal tubules in handling potassium excretion. Symptoms of hyperkalemia are non-specific, but are predominantly related to skeletal or cardiac muscle dysfunction, and can be fatal. Therefore, treatment has to be initiated immediately. Administration of fludrocortisone for hyperkalemia is appropriate in cases with hypoaldosteronism, but is challenging in young infants with hyperkalemia due to renal tubular immaturity, without pseudohypoaldosteronism. We report the case of a 25-day-old male presenting with persistent hyperkalemia with normal serum aldosterone, who was admitted with a first episode of pyelonephritis and unilateral high-grade vesicoureteral reflux. The patient was treated successfully with fludrocortisone.
Aldosterone* ; Fludrocortisone ; Humans ; Hyperkalemia* ; Hypoaldosteronism ; Infant ; Male ; Myocardium ; Potassium ; Pseudohypoaldosteronism ; Pyelonephritis* ; Urinary Tract ; Vesico-Ureteral Reflux

X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK) deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene deficiency. It is usually associated with hypogonadotropic hypogonadism, although in rare cases, it has been reported to occur in normal puberty or even central precocious puberty. This study addresses a case in which central precocious puberty developed in a boy with X-linked adrenal hypoplasia congenita who had complete deletion of the genes DAX-1, GK and IL1RAPL1 (Xp21 contiguous gene deletion syndrome). Initially he was admitted for the management of adrenal crisis at the age of 2 months, and managed with hydrocortisone and florinef. At 45 months of age, his each testicular volumes of 4 mL and a penile length of 5 cm were noted, with pubic hair of Tanner stage 2. His bone age was advanced and a gonadotropin-releasing hormone (GnRH) stimulation test showed a luteinizing hormone peak of 8.26 IU/L, confirming central precocious puberty. He was then treated with a GnRH agonist, as well as steroid replacement therapy. In Korea, this is the first case of central precocious puberty developed in a male patient with X-linked adrenal hypoplasia congenita.
Adrenal Hyperplasia, Congenital ; Adrenal Insufficiency ; DAX-1 Orphan Nuclear Receptor ; Fludrocortisone ; Gene Deletion ; Genetic Diseases, X-Linked ; Glycerol Kinase ; Gonadotropin-Releasing Hormone ; Hair ; Humans ; Hydrocortisone ; Hypogonadism ; Interleukin-1 ; Korea ; Luteinizing Hormone ; Male ; Muscular Dystrophy, Duchenne ; Puberty ; Puberty, Precocious

X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK) deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene deficiency. It is usually associated with hypogonadotropic hypogonadism, although in rare cases, it has been reported to occur in normal puberty or even central precocious puberty. This study addresses a case in which central precocious puberty developed in a boy with X-linked adrenal hypoplasia congenita who had complete deletion of the genes DAX-1, GK and IL1RAPL1 (Xp21 contiguous gene deletion syndrome). Initially he was admitted for the management of adrenal crisis at the age of 2 months, and managed with hydrocortisone and florinef. At 45 months of age, his each testicular volumes of 4 mL and a penile length of 5 cm were noted, with pubic hair of Tanner stage 2. His bone age was advanced and a gonadotropin-releasing hormone (GnRH) stimulation test showed a luteinizing hormone peak of 8.26 IU/L, confirming central precocious puberty. He was then treated with a GnRH agonist, as well as steroid replacement therapy. In Korea, this is the first case of central precocious puberty developed in a male patient with X-linked adrenal hypoplasia congenita.
Adrenal Hyperplasia, Congenital ; Adrenal Insufficiency ; DAX-1 Orphan Nuclear Receptor ; Fludrocortisone ; Gene Deletion ; Genetic Diseases, X-Linked ; Glycerol Kinase ; Gonadotropin-Releasing Hormone ; Hair ; Humans ; Hydrocortisone ; Hypogonadism ; Interleukin-1 ; Korea ; Luteinizing Hormone ; Male ; Muscular Dystrophy, Duchenne ; Puberty ; Puberty, Precocious

Cerebral salt wasting is characterized by inappropriate natriuresis and volume contraction with associated cerebral pathology. It is distinct from the syndrome of inappropriate antidiuretic hormone secretion, which is characterized by inappropriate retention of free water. We report a patient with a porencephalic cyst who developed cerebral salt wasting. His initial treatment was supplementation of water and salt, which did not improve natriuresis or volume contraction. Fludrocortisone administration effectively managed the cerebral salt wasting.
Adolescent ; Fludrocortisone/*therapeutic use ; Humans ; Hyponatremia/*drug therapy ; Male ; Natriuresis/physiology ; Sodium Chloride/therapeutic use

Adrenal myelolipoma is an uncommon non-functioning tumor that is composed of variable amounts of mature adipose tissue and scattered islands of hematopoietic elements, including erythroid, myeloid, lymphoid series, and megakaryocytes. Adrenal myelolipoma should be differentiated from other fat-containing adrenal masses, such as teratoma, lipoma, and liposarcoma. This case report describes a 50-year-old adult who was raised as a male and developed giant adrenal myelolipomas that presented as symptomatic adrenal masses, and which were misdiagnosed as liposarcoma on radiologic examination. The patient had been raised as a male despite ambiguous genitalia, and a thorough investigation was never carried out because of his poor socioeconomic status. Physical examination showed profound short stature (<-3.0 standard deviation score), hyperpigmentation, and a micropenis without palpable gonads. Both a uterus and ovaries were evident in the pelvic cavity on abdominopelvic computed tomography. Adrenocorticotropic hormone stimulation tests confirmed adrenal insufficiency. Steroid replacement therapy was initiated before bilateral adrenalectomy and the histologic findings indicated myelolipoma. The patient's karyotype was 46, XX and mutation analysis of the CYP21A2 gene identified compound heterozygosity consisting of p.I173N and p.Q319*. The patient was treated with once-daily 0.5 mg dexamethasone and once-daily 0.1 mg fludrocortisone. Because the subject had been raised as a male, additional procedures such as an oophorohysterectomy are currently under consideration. We here describe an adrenal myelolipoma in this case that was complicated by a 21-hydroxylase deficiency. We conclude from our analysis that patients with congenital adrenal hyperplasia should be screened for incidental adrenal masses to avoid unnecessary surgical procedures.
Adipose Tissue ; Adrenal Glands ; Adrenal Hyperplasia, Congenital ; Adrenal Insufficiency ; Adrenalectomy ; Adrenocorticotropic Hormone ; Adult ; Dexamethasone ; Disorders of Sex Development ; Female ; Fludrocortisone ; Genital Diseases, Male ; Gonads ; Humans ; Hyperpigmentation ; Islands ; Karyotype ; Lipoma ; Liposarcoma ; Male ; Megakaryocytes ; Myelolipoma ; Ovary ; Penis ; Physical Examination ; Social Class ; Steroid 21-Hydroxylase ; Teratoma ; Uterus