Search Our Scientific Publications & Authors

Publications
find publications by category +
Translate page:

Growth hormone therapy in HHRH.

Authors:
Guido Filler Clara Schott Fabio Rosario Salerno Andrea Ens Christopher William McIntyre Maria Esther Díaz González de Ferris Robert Stein

Bone Rep 2022 Jun 18;16:101591. Epub 2022 May 18.

Departments of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Canada.

Background: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) ( gene, OMIM 241530) is an autosomal recessive disorder that results in a loss of function of the sodium-phosphate NPT2c channel at the proximal tubule. Phosphate supplementation rarely improves serum phosphate, hypercalciuria, nephrocalcinosis, 1,25(OH) vitamin D (1,25(OH)D) levels or short stature.

Methods: We describe Na MRI and the successful use of recombinant human growth hormone (rhGH) and Fluconazole to improve growth (possibly confounded by puberty) and hypercalciuria in a now 12-year-old male with HHRH (novel homozygous mutation, c.835_846 + 10del.T).

Results: The patient had chronic bone pain, hypophosphatemia (0.65 mmol/L[reference interval 1.1-1.9]), pathological fractures and medullary nephrocalcinosis/hypercalciuria (urinary calcium/creatinine ratio 1.66 mol/mmol[<0.6]). TmP/GFR was 0.65 mmol/L[0.97-1.64]; 1,25(OH)D was >480 pmol/L[60-208]. Rickets Severity Score was 4. Treatment with 65 mg/kg/day of sodium phosphate and potassium citrate 10 mmol TID failed to correct the abnormalities.Adding rhGH at 0.35 mg/kg/week to the phosphate therapy, improved bone pain, height z-score from -2.09 to -1.42 over 6 months, without a sustained effect on TmP/GFR. Fluconazole was titrated to 100 mg once daily, resulting for the first time in a reduction of the 1,25(OH)D to 462 and 426 pmol/L; serum phosphate 0.87 mmol/L, and calcium/creatinine ratio of 0.73.Na MRI showed normal skin (z-score + 0.68) and triceps surae muscle (z-score + 1.5) Na levels; despite a defect in a sodium transporter, hence providing a rationale for a low sodium diet to improve hypercalciuria.

Conclusions: The addition of rhGH, Fluconazole and salt restriction to phosphate/potassium supplementation improved the conventional therapy. Larger studies are needed to confirm our findings.

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.bonr.2022.101591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9156862PMC
June 2022

Publication Analysis

Top Keywords

serum phosphate
8
bone pain
8
calcium/creatinine ratio
8
growth hormone
8
rhgh fluconazole
8
phosphate
5
confirm findings
4
abnormalitiesadding rhgh
4
potassium citrate
4
citrate 10 mmol
4
10 mmol tid
4
tid failed
4
failed correct
4
correct abnormalitiesadding
4
035 mg/kg/week phosphate
4
rhgh 035 mg/kg/week
4
sodium phosphate
4
phosphate therapy
4
therapy improved
4
improved bone
4

Keyword Occurance

Similar Publications

Bevacizumab encapsulation into PLGA nanoparticles functionalized with immunouteroglobin-1 as an innovative delivery system for atherosclerosis.

Authors:
Giulia De Negri Atanasio Pier Francesco Ferrari Ana Baião Patrizia Perego Bruno Sarmento Domenico Palombo Roberta Campardelli

Int J Biol Macromol 2022 Aug 12. Epub 2022 Aug 12.

Department of Civil, Chemical and Environmental Engineering, University of Genoa, via Opera Pia, 15, 16145 Genoa, Italy.

Atherosclerosis represents one of the main causes of death in the Western world. It is a multifactorial pathology characterized by lesions that reduce the lumen of the vessels causing serious clinical events. The extradomain-B of fibronectin is overexpressed during angiogenesis and in tissues undergoing growth and extensive remodeling, i. Read More

View Article and Full-Text PDF
August 2022
Similar Publications

3p-C-NETA: A versatile and effective chelator for development of AlF-labeled and therapeutic radiopharmaceuticals.

Authors:
Stephen Ahenkorah Erika Murce Christopher Cawthorne Jessica Pougoue Ketchemen Christophe M Deroose Thomas Cardinaels Yann Seimbille Humphrey Fonge Willy Gsell Guy Bormans Maarten Ooms Frederik Cleeren

Theranostics 2022 8;12(13):5971-5985. Epub 2022 Aug 8.

Radiopharmaceutical Research, Department of Pharmaceutical and Pharmacological sciences, University of Leuven, Leuven, Belgium.

: Radiolabeled somatostatin analogues ( [Ga]Ga-DOTATATE and [Lu]Lu-DOTATATE) have been used to diagnose, monitor, and treat neuroendocrine tumour (NET) patients with great success. [F]AlF-NOTA-octreotide, a promising F-labeled somatostatin analogue and potential alternative for Ga-DOTA-peptides, is under clinical evaluation. However, ideally, the same precursor (combination of chelator-linker-vector) can be used for production of both diagnostic and therapeutic radiopharmaceuticals with very similar ( AlF-method in combination with therapeutic radiometals Bi/Lu) or identical ( complementary Tb-radionuclides) pharmacokinetic properties, allowing for accurate personalised dosimetry estimation and radionuclide therapy of NET patients. Read More

View Article and Full-Text PDF
August 2022
Similar Publications

Use of gliptins reduces levels of SDF-1/CXCL12 in bullous pemphigoid and type 2 diabetes, but does not increase autoantibodies against BP180 in diabetic patients.

Authors:
Antti Nätynki Päivi Leisti Jussi Tuusa Outi Varpuluoma Laura Huilaja Kentaro Izumi Sanna-Kaisa Herukka Olavi Ukkola Juhani Junttila Nina Kokkonen Kaisa Tasanen

Front Immunol 2022 25;13:942131. Epub 2022 Jul 25.

Department of Dermatology, PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.

The use of dipeptidyl peptidase 4 (DPP4) inhibitors, (also known as gliptins), is associated with an increased risk of bullous pemphigoid (BP), an autoimmune blistering skin disease. To explore the mechanism behind gliptin-associated BP we investigated circulating autoantibodies against the major BP autoantigen BP180 in serum samples from patients with type 2 diabetes (T2D) with preceding gliptin medication (n = 136) or without (n = 136). Sitagliptin was the most frequently prescribed gliptin (125/136 patients). Read More

View Article and Full-Text PDF
August 2022
Similar Publications

Serum sphingosine-1 phosphate level is increased in patients with hepatitis B and displays a positive association with liver fibrosis.

Authors:
Mei Sun Ling Zeng Min Hu

Am J Transl Res 2022 15;14(7):4964-4976. Epub 2022 Jul 15.

Department of Laboratory Medicine, The Second Xiangya Hospital, Central South University Changsha 410011, Hunan, China.

Objective: To investigate the difference in serum sphingosine-1 phosphate (S1P) concentration between the HBV hepatitis patients and healthy controls, and its relevant association with serum liver fibrosis indicators.

Methods: A total of 28 HBsAg (+) HBeAg (+) Anti-HBc (+) hepatitis B patients, 42 HBsAg (+) Anti-HBe (+) Anti-HBc (+) hepatitis B patients, and 21 healthy subjects with normal liver function were included. Liquid chromatography-tandem mass method was used to detect the level of serum S1P. Read More

View Article and Full-Text PDF
July 2022
Similar Publications

Non-Invasive Skin Imaging Assessment of Human Stress During Head-Down Bed Rest Using a Portable Handheld Two-Photon Microscope.

Authors:
Junjie Wang Zhen Zhen Yanqing Wang Runlong Wu Yanhui Hu Qiang Fu Yongzhi Li Bingmu Xin Jinping Song Jianwei Li Yafei Ren Lishuang Feng Heping Cheng Aimin Wang Liming Hu Shukuan Ling Yingxian Li

Front Physiol 2022 25;13:899830. Epub 2022 Jul 25.

State Key Lab of Space Medicine Fundamentals and Application, China Astronaut Research and Training Center, Beijing, China.

Spaceflight presents a series of physiological and pathological challenges to astronauts resulting from ionizing radiation, microgravity, isolation, and other spaceflight hazards. These risks cause a series of aging-related diseases associated with increased oxidative stress and mitochondria dysfunction. The skin contains many autofluorescent substances, such as nicotinamide adenine dinucleotide phosphate (NAD(P)H), keratin, melanin, elastin, and collagen, which reflect physiological and pathological changes . Read More

View Article and Full-Text PDF
July 2022
Similar Publications
}