This article provides a comprehensive overview of electrolyte and water homeostasis in pediatric patients, focusing on some of the common serum electrolyte abnormalities encountered in clinical practice. Understanding pathophysiology, taking a detailed history, performing comprehensive physical examinations, and ordering basic laboratory investigations are essential for the timely proper management of these conditions. We will discuss the pathophysiology, clinical manifestations, diagnostic approaches, and treatment strategies for each electrolyte disorder. This article aims to enhance the clinical approach to pediatric patients with electrolyte imbalance-related emergencies, ultimately improving patient outcomes.Trial registration This manuscript does not include a clinical trial; instead, it provides an updated review of literature.
- Keywords
- Electrolyte imbalances, Hypercalcemia, Hyperkalemia, Hypernatremia, Hypocalcemia, Hypokalemia, Hyponatremia, Pediatrics,
- MeSH
- Acidosis diagnosis blood therapy MeSH
- Child MeSH
- Electrolytes blood MeSH
- Hypercalcemia therapy blood diagnosis etiology MeSH
- Hyperkalemia therapy diagnosis blood etiology MeSH
- Hypernatremia therapy diagnosis etiology physiopathology MeSH
- Hypocalcemia diagnosis etiology therapy MeSH
- Hypokalemia therapy diagnosis blood etiology MeSH
- Hyponatremia therapy etiology diagnosis MeSH
- Humans MeSH
- Emergencies * MeSH
- Acid-Base Imbalance diagnosis therapy physiopathology MeSH
- Water-Electrolyte Imbalance * therapy MeSH
- Water-Electrolyte Balance physiology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Names of Substances
- Electrolytes MeSH
Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4 gene are supposed to play the major role in SCCOHT oncogenesis and their identification is crucial for the diagnosis. Adequate genetic counselling of the patients and their families seems to be of great importance. Optimal management and treatment approaches are not known yet but may extremely influence the prognosis of young female patients that suffer from this very resistant disease. Nowadays, a translational research seems to be the key for the further diagnostic and treatment strategies of SCCOHT. The purpose of the case report is to provide practical information and useful recommendations on the diagnosis, management, and treatment of SMARCA4-deficient carcinoma of the uterine cervix resembling SCCOHT.
- Keywords
- case report, cervical cancer, diagnostic biomarker, gynecological cancer, high-risk, personalized treatment, predictive marker,
- MeSH
- DNA Helicases deficiency genetics MeSH
- Fatal Outcome MeSH
- Hypercalcemia diagnosis genetics metabolism therapy MeSH
- Nuclear Proteins deficiency genetics MeSH
- Humans MeSH
- Carcinoma, Small Cell diagnosis genetics metabolism therapy MeSH
- Adolescent MeSH
- Mutation MeSH
- Biomarkers, Tumor deficiency genetics MeSH
- Uterine Cervical Neoplasms diagnosis genetics metabolism therapy MeSH
- Transcription Factors deficiency genetics MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- DNA Helicases MeSH
- Nuclear Proteins MeSH
- Biomarkers, Tumor MeSH
- SMARCA4 protein, human MeSH Browser
- Transcription Factors MeSH
Skeletal deformation like genu valgum is reported to be rare in Primary hyperparathyroidism (PHPT). The solitary adenoma or hyperplasia of the parathyroid glands are the cause in 80-85% of the cases. We report 2 cases of girls on 12 years and 15 years of age, complaining from pain and genu valgum deformation of the lower extremities before the planned orthopaedic surgical correction. The first patient had complaints for 3 years and lost ability to walk independently, the second case lost normal gate for a period of 5 months. The paraclinical screening discovered hypercalcemia, hypophosphatemia, elevated alkaline phosphatase, normal creatinine, raised parathormone. In the first case the X-rays depicted fibrocystic osteodistrophy from a hyperparathyroid type with bone cysts, giant cell "brown tumors" and pathological bone reorganization, in the second case - coarse fibrous structure of the left knee joint with genu valgum with bone cysts in the distal metaphysis of the left femur. The ultrasound of the thyroid gland found oval hypoechoic formations with suspicious origin from the parathyroid glands. These findings were confirmed from the SPECT/CT pointing active adenomas in the parathyroid glands. Skeletal deformation like genu valgum is the reason to search for the primary diagnosis in our 2 cases. Investigation of the serum calcium and parathormone are diagnostic in 100%. The imaging diagnosis has a critical role for indicating surgical treatment of the parathyroid gland adenoma. Key words: genu valgum, hypercalcemia, paediatric parathyroid adenoma, ultrasound, SPECT/CT.
INTRODUCTION: Parathyroid cancer is a rare endocrine malignancy. These tumors are typically functional, causing severe hypercalcemia due to primary hyperparathyroidism. Nonfunctional parathyroid cancer with normal serum calcium and parathyroid hormone levels is extremely rare. The disease is usually indolent but progressive with a tendency to metastasize. It is very difficult to diagnose this malignancy. The definitive diagnosis is made by histopathological examination. Radical surgery with ipsilateral lobectomy and en bloc neck dissection is considered to be the most appropriate therapeutic approach. There is no evidence of efficiency of adjuvant cancer therapy and its indication has not been defined. Disease recurrence is common. CASE REPORT: We report the case of a 26-year-old female patient who underwent left hemithyroidectomy for growth progression of a hypoechoic lesion behind the left thyroid lobe detected by ultrasonography. Preoperative cytology and imaging assessments were not suspicious for malignancy. Serum parathyroid hormone and calcium levels were normal. The diagnosis of nonfunctional parathyroid carcinoma was determined based on histopathological examination. No further surgery or adjuvant therapy was indicated. No signs of recurrence or generalization have been observed at 36 months after the surgery. CONCLUSION: Nonfunctional parathyroid cancer is extremely rare. In many cases, the diagnosis is made in advanced stages of the disease. No formal classification or treatment protocol has been established so far. A new staging system has been proposed in the 8th edition of AJCC/UICC. Early detection, radical surgery and close follow-up are crucial aspects to affect the mortality and morbidity of patients with this type of malignancy.
- Keywords
- parathyroid cancer − nonfunctional parathyroid cancer − case report,
- MeSH
- Adult MeSH
- Hypercalcemia * MeSH
- Humans MeSH
- Neoplasm Recurrence, Local MeSH
- Parathyroid Neoplasms * diagnostic imaging surgery MeSH
- Hyperparathyroidism, Primary * MeSH
- Thyroidectomy MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
Familial hypocalciuric hypercalcemia (FHH) type 1, caused by a heterozygous inactivating mutation of the gene encoding the calcium-sensing receptor (CaSR), is characterized by mild to moderate hypercalcemia, hypocalciuria and inappropriately normal or elevated parathyroid hormone (PTH). FHH must be differentiated from primary hyperparathyroidism (PHPT) because parathyroidectomy is ineffective in the former. Herein, we report a 39-year-old male patient with a 13-year history of asymptomatic PTH-dependent hypercalcemia (mean calcium of 2.88 mmol/l; reference range 2.15-2.55 mmol/l) and calcium-to-creatinine clearance ratio (Ca/Cr) ranging from 0.007 to 0.0198, which is consistent with either FHH or PHPT. Although a family history of hypercalcemia was negative, and PET-CT with fluorocholine was suggestive of a parathyroid adenoma, genetic analysis of the CaSR gene identified a heterozygous inactivating mutation NM_000388.4:c.1670G>A p. (Gly557Glu) in exon 6 and a polymorphism NM_000388.4:c.1192G>A p. (Asp398Asn) in exon 4. The G557E mutation has been previously reported in a Japanese family in which all family members with the mutation had Ca/Cr below 0.01 consistent with FHH. The biochemical profile of FHH and PHPT may overlap. Our FHH patient with a G557E CaSR mutation illustrates that the differential diagnosis can be difficult in an index case with no family history, (false) positive parathyroid imaging and higher calciuria than expected for FHH. Calcium intake, vitamin D status and bone resorption might have contributed to the Ca/Cr variations over a 13-year clinical follow up. This case thus emphasizes the irreplaceable role of genetic testing of the CaSR gene when clinical evaluation is inconclusive.
- MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Hypercalcemia blood congenital diagnosis diagnostic imaging MeSH
- Humans MeSH
- Follow-Up Studies MeSH
- Positron Emission Tomography Computed Tomography methods MeSH
- Hyperparathyroidism, Primary blood diagnosis diagnostic imaging MeSH
- Prognosis MeSH
- Receptors, Calcium-Sensing blood MeSH
- Calcium blood MeSH
- Vitamin D blood MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Receptors, Calcium-Sensing MeSH
- Calcium MeSH
- Vitamin D MeSH
In June 2018, 77-year-old man was referred to The Department of Haematooncology, University Hospital Ostrava, for suspicion of multiple myeloma. This was supported by laboratory findings of hypercalcemia, paraprotein IgA κ in serum and by the presence of multiple osteolytic skeletal lesions. Low number of plasma cells in bone marrow sample - cytologically (3.6 %) as well as in flow cytometry (less than 95 % clonal plasma cells out of total bone marrow plasma cells) - pointed at the direction of monoclonal gammopathy of undetermined significance (MGUS). In the course of differential diagnosis of hypercalcemia, elevated level of parathormone had been found which led to the performance of 99mTc-MIBI scintigraphy where parathyroid adenoma was discovered and later histologically verified. The final diagnosis was determined as a coincidence of MGUS and primary hyperparathyroidism. This case report also contains brief differential diagnosis of hypercalcemia and osteolytic skeletal lesions and suggestions for their diagnostic algorithms.
- Keywords
- MGUS, hypercalcemia, multiple myeloma, osteolytic lesions, primary hyperparathyroidism,
- MeSH
- Hypercalcemia * complications MeSH
- Humans MeSH
- Multiple Myeloma * complications diagnosis MeSH
- Monoclonal Gammopathy of Undetermined Significance * MeSH
- Paraproteinemias * MeSH
- Paraproteins MeSH
- Aged MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Review MeSH
- Names of Substances
- Paraproteins MeSH
A nonagenarian hypertensive man with chronic kidney disease (CKD) was admitted to the emergency department for gastrointestinal symptoms and worsening symptoms of depression. Severe hypercalcemia (15.3 mg/dL) was found and he was hospitalized. Fluids, loop diuretics and glucocorticoids were administered intravenously, which partially reduced calcium levels over a few days and improved his clinical condition. PTH levels proved increased (306 pg/mL) and 25-OHD levels were reduced; primary hyperparathyroidism (PHPT) was diagnosed. Neck ultrasonography (USG) did not show parathyroid enlargement, nor did 99mTechnetium-sestamibi (SESTAMIBI) scintigraphy reveal hyperfunctioning parathyroid glands. By contrast, 18F-choline PET/CT evidenced a nodule located close to the oesophagus, behind the right thyroid lobe, which proved compatible with a hyperfunctioning parathyroid gland. Since the patient declined surgery, and zoledronate was unfit owing to areas of rarefaction of the jaw, the calcimimetic cinacalcet was started; the dosage was progressively titrated up to 120 mg/day with normalisation of calcium levels over time. PTH levels, however, proved erratic and showed an upward trend over the first year of therapy; however its levels partially decreased following increase of vitamin D levels by replacement therapy. Cinacalcet is a useful and safe drug, which can normalise calcium levels and improve the clinical condition, even in very old patients with severe PHPT who decline or are unfit for surgery.
- Keywords
- 18F-Choline PET/CT, cinacalcet, hypercalcemia, primary hyperparathyroidism,
- MeSH
- Choline MeSH
- Cinacalcet therapeutic use MeSH
- Hypercalcemia etiology MeSH
- Calcimimetic Agents therapeutic use MeSH
- Humans MeSH
- Positron Emission Tomography Computed Tomography methods MeSH
- Hyperparathyroidism, Primary complications diagnostic imaging drug therapy MeSH
- Radiopharmaceuticals MeSH
- Fluorine Radioisotopes MeSH
- Aged, 80 and over MeSH
- Severity of Illness Index MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Choline MeSH
- Cinacalcet MeSH
- Fluorine-18 MeSH Browser
- Calcimimetic Agents MeSH
- Radiopharmaceuticals MeSH
- Fluorine Radioisotopes MeSH
BACKGROUND/AIMS: The CYP24A1 gene encodes the vitamin D 24-hydroxylase enzyme, which hydroxylates active forms of vitamin D into inactive forms. Biallelic mutations in the CYP24A1 gene can lead to elevated levels of active vitamin D metabolites and, consequently, to hypercalcemia, hypercalciuria, nephrocalcinosis, and nephrolithiasis; however, monoallelic mutations have been associated only with milder phenotypes. In the present manuscript, we report the case of a young male patient who presented hypercalcemia and nephrolithiasis, suppressed parathormone, and elevated 1,25 dihydroxy vitamin D levels. METHODS: Biochemical analyses were performed on Cobas 8000, F. Hoffmann-La Roche AG, Basel, Switzerland. The proband was initially evaluated for occult malignancies by body imaging, serum electrophoresis, and tumor markers, which did not reveal any pathology. DNA samples of the proband and his sibling were then examined using Sanger sequencing. RESULTS: Genetic analysis revealed 2 compound heterozygous CYP24A1 mutations (p.L148P and p.R223*). The novel nonsense CYP24A1 mutation, p.R223*, was also found heterozygously in other family members with a medical history of nephrolithiasis. CONCLUSIONS: The identification of this gene mutation causing hypercalcemia, hypercalciuria, and renal stones allows the specific management of endogenous vitamin D production.
- Keywords
- 1,25-dihydroxy vitamin D3, CYP24A1, Hypercalcemia, Nephrolithiasis, Vitamin D 24-hydroxylase,
- MeSH
- Vitamin D3 24-Hydroxylase genetics MeSH
- Hypercalcemia MeSH
- Hypercalciuria MeSH
- Kidney Calculi genetics MeSH
- Humans MeSH
- Young Adult MeSH
- Mutation * MeSH
- Sequence Analysis, DNA MeSH
- Siblings MeSH
- Vitamin D blood MeSH
- Check Tag
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- CYP24A1 protein, human MeSH Browser
- Vitamin D3 24-Hydroxylase MeSH
- Vitamin D MeSH
BACKGROUND: Oncological diseases have, in most cases, a multifactorial etiology, composed of a combination of external and internal environmental factors. Hereditary tumorous syndromes are mostly autosomal dominant diseases with incomplete but very high penetrance. OBSERVATION: The patient, an 18-year-old virgin female, consulted a gynecologist in June 2018 because of metrorrhagia. Magnetic resonance imaging revealed a cervical tumor with the dimensions 80 × 90 × 80 mm. Histological analysis confirmed the presence of a very rare hypercalcemic type of small-cell carcinoma of the cervix. Further investigation of the germinal exom of the patient showed pathological variations in genes PALB2 and BRCA2, presented with recommendation of detailed examination by medical genetics. CONCLUSION: Clinical experience with this type of tumor is very limited, but it still comes with some useful outcome. Small cell carcinomas of the gynecologic tract are very rare, aggressive diseases, with very poor prognosis, affecting mainly young women. Their origin is most often the ovaries, based on most clinical data, but these tumor also localize to the endometrium, cervix, vagina and vulva. It is an extremely rare type of cancer, for which clinical data is scant due to the extremely low number of reported cases. In this patient, the carcinoma had an unusual genetical mutation burden, which she inherited from her parents. In the light of these findings, we recommend that patients suspected of having a small-cell of the gynecologic tract provide a detailed family history, and that genetic testing be considered in similar cases. This work was supported by MH CR grant 16-33209A and research program of Charles University Progress Q40/06. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 10. 6. 2019 Accepted: 9. 9. 2019.
- Keywords
- PALB2, BRCA2 mutation, hereditary neoplastic syndromes, rare cervical cancer, small-cell carcinoma, hypercalcemic type, whole exome sequencing,
- MeSH
- Hypercalcemia diagnostic imaging genetics pathology MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Carcinoma, Small Cell diagnostic imaging genetics pathology MeSH
- Adolescent MeSH
- Mutation MeSH
- Uterine Cervical Neoplasms diagnostic imaging genetics pathology MeSH
- BRCA2 Protein genetics MeSH
- Fanconi Anemia Complementation Group N Protein genetics MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- BRCA2 protein, human MeSH Browser
- PALB2 protein, human MeSH Browser
- BRCA2 Protein MeSH
- Fanconi Anemia Complementation Group N Protein MeSH
PURPOSE: Identification of pathologic parathyroid glands in primary hyperparathyroidism, traditionally based on neck ultrasound (US) and/or 99mTc-Sestamibi scintigraphy, can be challenging. PET/CT with 18F-Fluorocholine (18F-FCH) might improve the detection of pathologic parathyroid glands. We aimed at comparing the diagnostic performance of 18F-FCH-PET/CT with that of dual-phase dual-isotope parathyroid scintigraphy and neck US. METHODS: Thirty-four consecutive patients with primary hyperparathyroidism were prospectively enrolled, 7 had normocalcemic hyperparathyroidism, and 27 had classic hypercalcemic hyperparathyroidism. All patients underwent high-resolution neck US, dual-phase dual-isotope 99mTc-Pertechnetate/99mTc-Sestamibi scintigraphy, and 18F-FCH-PET/CT. RESULTS: In the whole patients' group, the detection rates of the abnormal parathyroid gland were 68% for neck US, 71% for 18F-FCH-PET/CT, and only 15% for 99mTc-Sestamibi scintigraphy. The corresponding figures in normocalcemic and hypercalcemic hyperparathyroidism were 57 and 70% for neck US, 70 and 71% for 18F-FCH-PET/CT, and 0 and 18% for 99mTc-Sestamibi scintigraphy, respectively. In the 17 patients in whom the abnormal parathyroid gland was identified, either at surgery or at fine needle aspiration cytology/biochemistry, the correct detection rate was 82% for neck US, 89% for 18F-FCH-PET/CT, and only 17% for 99mTc-Sestamibi scintigraphy. CONCLUSIONS: 18F-FCH-PET/CT can be considered a first-line imaging technique for the identification of pathologic parathyroid glands in patients with normocalcemic and hypercalcemic hyperparathyroidism, even when the parathyroid volume is small.
- Keywords
- Normocalcemic hyperparathyroidism, PETC/CT with 18F-Choline, Primary hyperparathyroidism,
- MeSH
- Choline analogs & derivatives MeSH
- Adult MeSH
- Hypercalcemia diagnostic imaging pathology surgery MeSH
- Hyperparathyroidism diagnostic imaging pathology surgery MeSH
- Cohort Studies MeSH
- Middle Aged MeSH
- Humans MeSH
- Parathyroid Neoplasms diagnostic imaging pathology surgery MeSH
- Follow-Up Studies MeSH
- Positron Emission Tomography Computed Tomography methods MeSH
- Prognosis MeSH
- Radiopharmaceuticals MeSH
- Radionuclide Imaging methods MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Ultrasonography methods MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Choline MeSH
- fluorocholine MeSH Browser
- Radiopharmaceuticals MeSH
