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The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly

Hypophosphatemic rickets: diagnosis and treatment.

Hypophosphatemicrickets (HR) represents a heterogeneous group of disorders characterized by renal phosphate wasting, impaired bone mineralization, and skeletal deformities. This narrative review provides an overview of phosphate homeostasis and the molecular mechanisms underlying HR, focusing on the role of Fibroblast Growth Factor 23 (FGF23) in regulating renal phosphate use and vitamin D metabolism. The clinical, biochemical, and genetic features of both FGF23-dependent and -independent forms of HR are discussed, including X-linked hypophosphatemia (XLH), autosomal dominant hypophosphatemic

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… Patients with Dent’s disease exhibit low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and progressive renal failure, as well as phosphate wasting and rickets ( 86 ) . … Thiazide diuretics arrest the progression of nephrocalcinosis in children with X-linked hypophosphatemia. Pediatrics. 2001;108(1):E6. doi: 10.1542/peds.108.1.e6.. 72. …

Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.

CONTEXT: Long-term data on enzyme replacement treatment of hypophosphatasia (HPP) are limited. OBJECTIVE: To evaluate efficacy and safety of asfotase alfa in patients aged ≤5 years with HPP followed for up to 6 years. DESIGN: Phase 2 open-label study (July 2010 to September 2016). SETTING: Twenty-two sites; 12 countries. PARTICIPANTS: Sixty-nine patients [median (range) age: 16.0 (0.02 to 72) months] with severe HPP and sign/symptom onset before age 6 months. INTERVENTION: Asfotase alfa 2 mg/kg three times/week or 1 mg/kg six times/week subcutaneously. MAIN OUTCOME MEASURES: Primary effi

Недооцененная причина гиперкальцемии: доклад о деле о синдроме Молка-Алкали.

Молоко-щелочный синдром (MAS) был впервые охарактеризован как отрицательное воздействие режима Sippy, в котором содержится большое количество бикарбоната натрия, что создает клинический сценарий, в котором гиперкальцемия, метаболический алкалоз и острая почечная недостаточность могут создать одновременные характеристики MAS. Синдром возобновился из-за широкого применения добавок кальция. A 50-year-old Белая женщина была доставлена в отделение скорой помощи ее врачом-терапевтом после случайного обнаружения гиперкальцемии во время проверки на усталость. У нее диагностировали острую почечную недо

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… Further, she was given regular follow-up in the endocrine clinic for monitoring of nephrocalcinosis via renal ultrasound, given the patient's history of acute kidney injury (Figure 1 ). Figure 1 Treatment response to high calcium in milk-alkali syndrome. … Orwoll described its acute phase and severe chronic form [ 11 ], detailing its prolonged toxicities: nephrocalcinosis leading to renal failure and band keratopathy (corneal calcium deposits) [ 12 ]. This chronic variant is termed "Burnett's Syndrome" [ 13 ]. …

[Pathophysiology, diagnosis and conservative therapy in calcium kidney calculi].

Annual incidences of kidney stones are about 0.1-0.4% of the population, and lifetime prevalences in the USA and Europe range between 8 and … e episode (i.e. strongly positive family history, inflammatory bowel disease, short-bowel syndrome, nephrocalcinosis, bilateral stones, hypercalcemia, renal tubular acidosis, airline pilots) as well as in all recurrent stone formers, an extended metabolic evaluation should be performed. Two 24-hurines should be collected on free-choice diet not prior to three mont …

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.

X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidiscip

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… However, some degree of renal tubular acidosis may be acquired during long-standing XLH, particularly when associated with nephrocalcinosis ( 33 ). … Thiazide diuretics reduce hypercalciuria and may halt the progression of nephrocalcinosis in XLH ( 167 ). Thiazides should therefore be considered in case of arterial hypertension. …

The Crystalline Nephropathies.

Crystalline nephropathies are a unique form of kidney disease characterized by the histologic finding of intrarenal crystal deposition. The intrinsic nature of some molecules and ions combined with a favorable tubular fluid physiology leads to crystal precipitation and deposition within the tubular lumens. Crystal deposition promotes kidney injury through tubular obstruction and both direct and indirect cytotoxicities. Further kidney injury develops from inflammation triggered by these crystals. From a clinical standpoint, the crystalline nephropathies are associated with abnormal urinalysis a

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… Nephrocalcinosis From Dent Disease and Lowe Syndrome Two rare inherited disorders associated with nephrocalcinosis include Dent disease and Lowe syndrome ( Table 3 ). … H19 promote calcium oxalate nephrocalcinosis-induced renal tubular epithelial cell injury via a ceRNA pathway EBioMedicine 50 2019 366 378 10.1016/j.ebiom.2019.10.059 31735555 PMC6921206 10 Ludwig-Portugall I. Bartok E. Dhana E. …

Zinc Inhibits Phosphate-Induced Vascular Calcification through TNFAIP3-Mediated Suppression of NF-κB.

Background The high cardiovascular morbidity and mortality of patients with CKD may result in large part from medial vascular calcification, a process promoted by hyperphosphatemia and involving osteo-/chondrogenic transdifferentiation of vascular smooth muscle cells (VSMCs). Reduced serum zinc levels have frequently been observed in patients with CKD, but the functional relevance of this remains unclear.Methods We performed experiments in primary human aortic VSMCs; klotho-hypomorphic (kl/kl), subtotal nephrectomy, and cholecalciferol-overload mouse calcification models; and serum samples fro

Phosphate Metabolism in Health and Disease.

Phosphorus, a 5A element with atomic weight of 31, comprises just over 0.6% of the composition by weight of plants and animals. Three isotop … malacia/rickets, soft tissues as ectopic mineralization, skeletal muscle as myopathy, and kidney as nephrocalcinosis and urinary stone formation. Fig. 1 Content of phosphorus in human adult: skeleton, soft tissue, and extracellular fluid (grams, log scale). Corresponding data for calcium are shown for comparison Fig. 2 Phosphate (Pi) transport to and from tissue c …

Growth suppression of human oral cancer cells by candidate agents for cetuximab-side effects.

Cetuximab, an inhibitor of the epidermal growth factor receptor that is used widely to treat human cancers including oral squamous cell carcinoma (OSCC), has characteristic side effects of skin rash and hypomagnesemia. However, the mechanisms of and therapeutic agents for skin rashes and hypomagnesemia are still poorly understood. Our gene expression profiling analyses showed that cetuximab activates the p38 MAPK pathways in human skin cells (human keratinocyte cell line [HaCaT]) and inhibits c-Fos-related signals in human embryonic kidney cells (HEK293). We found that while the p38 inhibitor

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated patients were found by next generation sequencing to have the same heterozygous mutation in an essential donor splice site of PIK3R1 (NM_181523.2:c.1425 + 1G > A) found in three prior reports. All four had the Hyper IgM syndrome, lymphadenopathy and short stature, and one also had SHORT syndrome. They were investigated with in vitro immune studies, RT-PCR, and immunoblottin

Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial.

BACKGROUND: Children with X-linked hypophosphataemia have high concentrations of circulating phosphatonin fibroblast growth factor 23 (FGF23 … e mild to moderate, except a severe food allergy considered unrelated to treatment. No instances of nephrocalcinosis or noteworthy changes in the results of a standard safety chemistry panel emerged. Total Thacher Rickets Severity Score decreased by a least squares mean of -1·7 (SE 0·1; p<0·0001) from baseline to week 40 and by -2·0 (SE 0·1; p<0·0001) by week 64. …

Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.

BackgroundHypophosphatasia (HPP) is a rare disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP), encoded by the ALPL gene. The primary objective was to explore novel ALPL variants by whole genome sequencing (WGS) in patients with HPP who previously tested negative by standard methods for ALPL variants. The secondary objective was to search for genes beyond ALPL that may reduce ALP activity or contribute to HPP symptoms.Methods and resultsWGS was performed in 16 patients clinically diagnosed with HPP who had ALP activity below the normal range and tested negativ

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… mineral density, dyspnea, headache, muscle weakness, pain, postural instability, premature loss of permanent teeth, recurrent fractures 7 | Abdominal distention, abnormal alkaline phosphatase level, arthralgia, bone pain, depression, fatigue, gait disturbance, joint stiffness, memory impairment, myalgia, nephrocalcinosis … , depression, dysphagia, fatigue, gait disturbance, headache, joint stiffness, loss of appetite, memory impairment, muscle weakness, myalgia, restricted joint mobility, scoliosis, seizure 14 | Arthralgia, body aches, bone pain, decreased bone mineral density, fatigue, joint stiffness, kidney stone, nephrocalcinosis …

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

The phosphatidylinositol 3 kinase (PI3K) pathway regulates fundamental cellular processes such as metabolism, proliferation, and survival. A central component in this pathway is the p85α regulatory subunit, encoded by PIK3R1. Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome). This mutation led to impaired interaction between p85α and IRS-1 and reduced AKT-mediated insulin signaling in fibroblasts

A modified method for reducing renal injury in zoledronic Acid treatment of hypercalcemia and adverse skeletal events.

AimsIn this paper, we have reported a previously undescribed risk factor of deterioration of renal function in zoledronic acid treatment of skeletal metastasis - high serum calcium level. Based on this consideration, a modified method of treatment of hypercalcemia (HCM) with zoledronic acid is suggested in this paper.Material and methodsBone scan findings of 1090 cancer patients were analyzed, of which 26 had intense renal parenchymal uptake as a result of HCM or bone metastases. Subsequently, a total of 56 bone metastases patients with zoledronic acid treatment were divided into three groups:

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… Bossuyt suggested that increased uptake in kidneys is due to nephrocalcinosis in the hypercalcemic patients.[ 26 ] Although bisphosphonates are commonly used to treat established HCM, they have also been given to prevent the other SREs in patients with metastatic cancer to bone. … Usefulness of 99mTc-Methylene Diphosphonate Scintigraphy in Nephrocalcinosis. Clin Nucl Med. 1979;8:333–4. doi: 10.1097/00003072-197908000-00005. 27. Chapuy MC, Meunier PJ, Alexandre CM, Vignon EP. Effects of disodium dichloromethylene diphosphonate on hypercalcemia produced by bone metastases. …

Brown tumor due to primary hyperparathyroidism in a familial case: a case report.

BACKGROUND: Primary hyperparathyroidism (PHPT) is an uncommon disorder characterised by hypercalcemia with an increased parathyroid hormone … tion remained normal. There was no evidence of bilateral kidney disease (such as nephrolithiasis or nephrocalcinosis) detected by ultrasound scan. There were several similarities in the state of illness between these two subjects. Both the father and the daughter developed parathyroid adenomas at the age of 15, and there was no lesion in other endocrine glands. An …

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in

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… Other signs include myopathy, nephrocalcinosis and ophthalmic calcification [ 52 , 53 ]. … The first symptoms are the occurrence of recurrent urinary lithiases, complicated by progressive renal impairment due to nephrocalcinosis. …

Acute kidney injury in the patient with cancer.

Dramatic advances in the care of patients with cancer have led to significant improvement in outcomes and survival. However, renal manifestations of the underlying cancer as well as the effects of anti-neoplastic therapies leave patients with significant morbidity and chronic kidney disease risks. The most common renal manifestations associated with cancer include acute kidney injury (AKI) in the setting of multiple myeloma, tumor lysis syndrome, post-hematopoietic stem cell therapy, and AKI associated with chemotherapy. Knowledge of specific risk factors, modification of risk and careful atte

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… AKI in TLS occurs due to a combination of cytokine release with inflammatory tubular injury, acute uric acid/ xanthine nephropathy, and acute nephrocalcinosis due to an elevated calcium-phosphate product [ 2 ]. … Rarely, severe hypercalcemia may cause AKI via intratubular calcium-phosphate deposition (nephrocalcinosis), especially if the calcium-phosphate concentration product is higher than 70 mg 2 /dL 2 . …

A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain.

Hereditary fructose intolerance is a rare genetic disorder that is inherited in an autosomal recessive manner, with mutations sometimes occurring spontaneously. Consuming fructose triggers biochemical abnormalities, disrupting liver processes like glycogenolysis and gluconeogenesis. Recent studies have revealed elevated intrahepatic fat levels in affected individuals. Symptoms include aversion to fructose-containing foods, hypoglycemia, liver and kidney dysfunction, and growth delays, with severe cases leading to liver enlargement, fatty liver disease, kidney failure, and life-threatening hypo

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… Renal changes include a syndrome similar to Fanconi syndrome and nephrocalcinosis. The mechanism underlying the renal dysfunction is not well defined [ 7 ]. … Heavy metal poisoning (lead, cadmium, mercury), medications (acetazolamide, topiramate, tenofovir, lamivudine), conditions causing nephrocalcinosis (hyperparathyroidism, hypercalciuria), and sickle cell anemia should be taken into account, too [ 27 ]. …

Nephrotoxicity in Bispecific Antibodies Recipients: Focus on T-Cell-Engaging Bispecific Antibodies.

Recently, bispecific antibodies (BsAbs) are evolving the landscape of cancer treatment and have significantly improved the outcomes of relapsed or refractory cancer patients. As increasing BsAbs entered clinical practice, specific toxicities have emerged, and renal side-effects have been described. However, there are a lack of studies analyzing the nephrotoxicity in the anti-cancer BsAbs recipients systematically. In this review, we demonstrate the etiologies, mechanisms, other risk factors and treatment options of kidney injury in the BsAbs recipients to provide a more comprehensive insight i

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… disorder characterized by hyperuricemia, hyperphosphatemia, hyperkalemia, and hypocalcemia, brought about by rapid tumor cell destruction that may result in a variety of systematic manifestations including musculoskeletal, cardiac, neurologic, and kidney injury. 41 Hyperuricemia can cause nephropathy/nephrocalcinosis-induced … renal failure, and damaged glomerular filtration secondary to preceding urate nephropathy/nephrocalcinosis-induced renal failure can subsequently occur. 41 There is a high risk of kidney damage caused by precipitation of uric acid and calcium phosphate crystals in renal tubules. 42 Although TLS can …