Charakterisierung von Patient:innen mit niedriger alkalischer Phosphatase

Hummel, Leonhard Sebastian

Ausprägung der klinischen Problematik und Zahl der Betroffenen mit Hypophosphatasie in einem ambulanten Kollektiv

dc.contributor.advisor	Siggelkow, Heide Prof. Dr.
dc.contributor.author	Hummel, Leonhard Sebastian
dc.date.accessioned	2025-06-04T07:42:43Z
dc.date.issued	2025-06-04
dc.identifier.uri	http://resolver.sub.uni-goettingen.de/purl?ediss-11858/16032
dc.identifier.uri	http://dx.doi.org/10.53846/goediss-11304
dc.format.extent	V, 73	de
dc.language.iso	deu	de
dc.subject.ddc	610	de
dc.title	Charakterisierung von Patient:innen mit niedriger alkalischer Phosphatase	de
dc.title.alternative	Ausprägung der klinischen Problematik und Zahl der Betroffenen mit Hypophosphatasie in einem ambulanten Kollektiv	de
dc.type	doctoralThesis	de
dc.title.translated	Characterization of patients presenting with low serum alkaline phosphatase	de
dc.contributor.referee	Schilling, Arndt Prof. Dr
dc.date.examination	2025-06-18	de
dc.description.abstracteng	Patients with hypophosphatasia have limited health and quality of life. It is currently controversial whether patients with a heterozygous mutation actually have any significant clinical symptoms. On the other hand, the mild form of hypophosphatasia can resemble the clinical picture of osteoporosis and as such could be incorrectly treated with bisphosphonates, which is contraindicated in hypophosphatasia. The main task was to characterize those affected with a low alkaline phosphatase (AP) at the MVZ Endokrinologikum Göttingen between 2006 and 2020. It was of interest how many of the patients identified in this way were subsequently diagnosed with hypophosphatasia. With the help of the groups gained in this way (low AP with or without genetic evidence of hypophosphatasia) an attempt can be made to identify differences between the groups in terms of complaint burden and clinical expression of the disease. We examined 49 patients regarding age, gender, laboratory parameters (blood and urine samples, with special analysis regarding AP), functional Tests, incidence/types of fractures (also with regard to osteoporosis according to the DVO guidelines relevant fractures), bone density and quality as well as 10-year fracture risk (FRAX). The division into three groups was based on the genetic examination: those with a genetically proven mutation (21 patients), those without a genetically proven one mutation (13 patients) and those without genetic testing (17 patients). The three groups were then compared in terms of similarities and differences. The mutation c.571G>A (p.Glu191Lys) was the most common at 33%. Differences according to group division was reflected in the following parameters: There was an increased volume of fractures with 57% in the diseased group. The AP as well as bone-specific AP was lower in the sick group, while PLP was increased in the sick and non-sick people (due to the study design). The patients could not be distinguished by bone density or bone structure nor by the type of fracture. The groups did not differ in the fracture risk calculation, although the highest fracture risk according to BMD or TBS was always in the genetically diseased group.	de
dc.contributor.coReferee	Schön, Margarete Prof. Dr.
dc.title.alternativeTranslated	Assessment of the clinical spectrum and prevalence of hypophosphatasia in an outpatient cohort	de
dc.subject.ger	Hypophosphatasie	de
dc.subject.ger	Alkalische Phosphatase	de
dc.subject.ger	Osteoporose	de
dc.subject.eng	hypophosphatasia	de
dc.subject.eng	alkaline phosphatase	de
dc.subject.eng	osteoporosis	de
dc.identifier.urn	urn:nbn:de:gbv:7-ediss-16032-5
dc.date.embargoed	2026-06-17
dc.affiliation.institute	Medizinische Fakultät	de
dc.subject.gokfull	Diagnostik {Medizin} (PPN619875739)	de
dc.description.embargoed	2026-06-17	de
dc.identifier.ppn	1927686199
dc.notes.confirmationsent	Confirmation sent 2025-06-04T07:45:01	de

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Human- und Zahnmedizin [3270]

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